722064003: Odontoleukodystrophy (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of brain\Disorder of brain\Disorder of pituitary gland (disorder)\Hypopituitarism\Hypogonadotropic hypogonadism\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Head finding (finding)\Finding of brain\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Head finding (finding)\Finding of brain\Disorder of brain\Chronic brain syndrome (disorder)\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Disorder of mouth (disorder)\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Chronic disease of teeth AND/OR supporting structures (disorder)\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Tooth finding\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development (disorder)\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Disorder of teeth AND/OR supporting structures (disorder)\Chronic disease of teeth AND/OR supporting structures (disorder)\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Head finding (finding)\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Head finding (finding)\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Head finding (finding)\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Head finding (finding)\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Chronic disease of teeth AND/OR supporting structures (disorder)\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Head finding (finding)\Finding of head region\Disorder of jaw\Congenital anomaly of jaw (disorder)\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Head finding (finding)\Disorder of head (disorder)\Disorder of mouth (disorder)\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Head finding (finding)\Disorder of head (disorder)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Head finding (finding)\Disorder of head (disorder)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Head finding (finding)\Disorder of head (disorder)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Head finding (finding)\Disorder of head (disorder)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Chronic disease of teeth AND/OR supporting structures (disorder)\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of jaw (disorder)\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Hypopituitarism\Hypogonadotropic hypogonadism\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Chronic disease of teeth AND/OR supporting structures (disorder)\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Congenital anomaly of jaw (disorder)\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.

\Digestive system finding (finding)\Finding of mouth region (finding)\Disorder of mouth (disorder)\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Digestive system finding (finding)\Finding of mouth region (finding)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Digestive system finding (finding)\Finding of mouth region (finding)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Digestive system finding (finding)\Finding of mouth region (finding)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Digestive system finding (finding)\Finding of mouth region (finding)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Chronic disease of teeth AND/OR supporting structures (disorder)\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding\Tooth finding\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development (disorder)\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding\Disorder of teeth AND/OR supporting structures (disorder)\Chronic disease of teeth AND/OR supporting structures (disorder)\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Digestive system finding (finding)\Disease of digestive system (disorder)\Digestive system hereditary disorder\Hereditary disorder of tooth\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Digestive system finding (finding)\Disease of digestive system (disorder)\Chronic digestive system disorder (disorder)\Chronic disease of teeth AND/OR supporting structures (disorder)\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Disorder of mouth (disorder)\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Chronic disease of teeth AND/OR supporting structures (disorder)\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Tooth disorder\Disorder of tooth development (disorder)\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Congenital anomaly of digestive organ (disorder)\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive organ (disorder)\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (disorder)\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Hypogonadotropic hypogonadism\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Chronic disease of genitourinary system (disorder)\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism (disorder)\Hypogonadotropic hypogonadism\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (disorder)\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Hypogonadotropic hypogonadism\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Chronic disease of genitourinary system (disorder)\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (disorder)\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Hypogonadotropic hypogonadism\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Chronic disease of genitourinary system (disorder)\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.

\Neurological lesion\Leucodystrophy\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.

\Finding of coordination\Ataxia\Hereditary ataxia (disorder)\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.

\Central nervous system finding\Finding of brain\Disorder of brain\Disorder of pituitary gland (disorder)\Hypopituitarism\Hypogonadotropic hypogonadism\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Central nervous system finding\Finding of brain\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Central nervous system finding\Finding of brain\Disorder of brain\Chronic brain syndrome (disorder)\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Hypopituitarism\Hypogonadotropic hypogonadism\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Leucodystrophy\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Reproductive system hereditary disorder (disorder)\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Hereditary disorder of tooth\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw (disorder)\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ (disorder)\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive organ (disorder)\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Reproductive system hereditary disorder (disorder)\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Hereditary disorder of tooth\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of pituitary gland (disorder)\Hypopituitarism\Hypogonadotropic hypogonadism\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Hereditary disorder of endocrine system (disorder)\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of endocrine gonad\Hypogonadism (disorder)\Hypogonadotropic hypogonadism\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Leucodystrophy\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of body system\Disease of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic brain syndrome (disorder)\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Hypopituitarism\Hypogonadotropic hypogonadism\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Leucodystrophy\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of body system\Disease of digestive system (disorder)\Digestive system hereditary disorder\Hereditary disorder of tooth\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of body system\Disease of digestive system (disorder)\Chronic digestive system disorder (disorder)\Chronic disease of teeth AND/OR supporting structures (disorder)\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Disorder of mouth (disorder)\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Chronic disease of teeth AND/OR supporting structures (disorder)\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Tooth disorder\Disorder of tooth development (disorder)\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Congenital anomaly of digestive organ (disorder)\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive organ (disorder)\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (disorder)\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Hypogonadotropic hypogonadism\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Chronic disease of genitourinary system (disorder)\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (disorder)\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Hypogonadotropic hypogonadism\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Chronic disease of genitourinary system (disorder)\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of head (disorder)\Disorder of mouth (disorder)\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of head (disorder)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of head (disorder)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of head (disorder)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of head (disorder)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Chronic disease of teeth AND/OR supporting structures (disorder)\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of jaw (disorder)\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of head (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Hypopituitarism\Hypogonadotropic hypogonadism\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of head (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of head (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Chronic disease of teeth AND/OR supporting structures (disorder)\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Disorder of head (disorder)\Disorder of jaw\Congenital anomaly of jaw (disorder)\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Chronic disease\Chronic disease of genitourinary system (disorder)\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Chronic disease\Chronic digestive system disorder (disorder)\Chronic disease of teeth AND/OR supporting structures (disorder)\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic brain syndrome (disorder)\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Developmental disorder (disorder)\Disorder of tooth development (disorder)\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Developmental disorder (disorder)\Disorder of tooth development (disorder)\Malformation of tooth\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\4H leucodystrophy\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw (disorder)\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ (disorder)\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth\Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.	Is a	Leucodystrophy	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.	Is a	Digestive system hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.	Is a	Congenital anomaly in number of teeth	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.	Associated morphology	Congenital abnormal number	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.	Finding site	Entire tooth	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.	Associated morphology	Myelin sheath alteration	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.	Finding site	Nervous system structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.	Is a	Hereditary disorder of nervous system (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.	Finding site	White matter structure of brain and spinal cord (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.	Is a	Hereditary degenerative disease of central nervous system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.	Is a	Developmental hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.	Is a	Hereditary disorder of tooth	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.	Is a	4H leucodystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.	Is a	Chronic disease of teeth AND/OR supporting structures (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.	Is a	Chronic disease of genitourinary system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.	Is a	Hereditary ataxia (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.	Is a	Chronic brain syndrome (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.	Finding site	Structure of distal part of pituitary	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.	Finding site	Gonadal endocrine structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.	Associated morphology	Abnormal number (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3330439012	Odontoleukodystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330440014	Odontoleukodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330441013	Dentoleukoencephalopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330442018	Leukodystrophy with oligodontia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330443011	Leucodystrophy with oligodontia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330444017	Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3330439012	Odontoleukodystrophy (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3330439012	Odontoleukodystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330440014	Odontoleukodystrophy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3330440014	Odontoleukodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330441013	Dentoleukoencephalopathy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3330441013	Dentoleukoencephalopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330442018	Leukodystrophy with oligodontia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3330442018	Leukodystrophy with oligodontia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330443011	Leucodystrophy with oligodontia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3330443011	Leucodystrophy with oligodontia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330444017	Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3408351001000114	Odontoleukodystrophie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
941351000172118	odontoleucodystrophie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1006291000172113	dento-leuco-encéphalopathie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
941351000172118	odontoleucodystrophie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1006291000172113	dento-leuco-encéphalopathie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3408351001000114	Odontoleukodystrophie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module