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363235000: Hereditary disorder of nervous system (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
482376012 Hereditary disorder of nervous system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
755036018 Hereditary disorder of nervous system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
6244341000241113 affection héréditaire du système nerveux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1239 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of nervous system Is a Hereditary disorder by system true Inferred relationship Some
Hereditary disorder of nervous system Is a Disorder of nervous system (disorder) true Inferred relationship Some
Hereditary disorder of nervous system Finding site Structure of nervous system (body structure) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Microcephaly-capillary malformation syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Von Hippel-Lindau syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Hereditary neurocutaneous angiomata (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Peutz-Jeghers syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Tuberous sclerosis syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Neurofibromatosis syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Biotin-thiamine-responsive basal ganglia disease (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Mowat-Wilson syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Megalencephalic leukoencephalopathy with subcortical cysts Is a True Hereditary disorder of nervous system Inferred relationship Some
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation Is a False Hereditary disorder of nervous system Inferred relationship Some
A rare systemic disorder characterised by vitreoretinal and macular degeneration, as well as occipital encephalocele. Is a True Hereditary disorder of nervous system Inferred relationship Some
Dentatorubropallidoluysian degeneration Is a False Hereditary disorder of nervous system Inferred relationship Some
Hypomagnesemia with secondary hypocalcemia (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Mitochondrial membrane protein associated neurodegeneration (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive axonal neuropathy with neuromyotonia Is a True Hereditary disorder of nervous system Inferred relationship Some
Cerebroretinal microangiopathy with calcifications and cysts Is a False Hereditary disorder of nervous system Inferred relationship Some
Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterized by intellectual deficiency and seizures that are more severe in male patients. Is a True Hereditary disorder of nervous system Inferred relationship Some
A rare neurologic disease characterized by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiadochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986. Is a False Hereditary disorder of nervous system Inferred relationship Some
A rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age. Is a True Hereditary disorder of nervous system Inferred relationship Some
A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability. Is a True Hereditary disorder of nervous system Inferred relationship Some
Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon). Is a False Hereditary disorder of nervous system Inferred relationship Some
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. Is a False Hereditary disorder of nervous system Inferred relationship Some
A rare syndromic cerebellar ataxia characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy. Is a False Hereditary disorder of nervous system Inferred relationship Some
Choroideremia co-occurrent with hypopituitarism Is a False Hereditary disorder of nervous system Inferred relationship Some
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive. Is a False Hereditary disorder of nervous system Inferred relationship Some
A rare, genetic form of pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy that manifests clinically with uncoordinated sucking and swallowing, and generalized clonus in the neonate. In early childhood, spasticity, chorea/dyskinesia, seizures and progressive microcephaly develop. Voluntary motor development is lacking. Is a True Hereditary disorder of nervous system Inferred relationship Some
A rare, hereditary ataxia disorder characterized by the presence of spastic ataxia in association with bilateral congenital cataract, macular corneal dystrophy (stromal with deposition of mucoid material) and nonaxial myopia. Patients present normal intellectual development. There have been no further descriptions in the literature since 1986. Is a True Hereditary disorder of nervous system Inferred relationship Some
A rare disorder characterized by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive. Is a False Hereditary disorder of nervous system Inferred relationship Some
A rare autosomal recessive cerebellar ataxia, characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia. Is a False Hereditary disorder of nervous system Inferred relationship Some
Microcephaly-microcornea syndrome, Seemanova type is characterized by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait. Is a False Hereditary disorder of nervous system Inferred relationship Some
Paroxysmal dystonic choreoathetosis with episodic ataxia and spasticity (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Generalized epilepsy-paroxysmal dyskinesia syndrome is characterized by the association of paroxysmal dyskinesia and generalized epilepsy (usually absence or generalized tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant. Is a True Hereditary disorder of nervous system Inferred relationship Some
Oculocerebral dysplasia syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome. Is a False Hereditary disorder of nervous system Inferred relationship Some
A rare developmental defect during embryogenesis malformation syndrome characterized by congenital, non-communicating hydrocephalus, cerebellar agenesis and absence of the Luschka and Magendie foramina. Patients present with hypotonia, areflexia or hyporeflexia, seizures and/or cyanosis shortly after birth. The condition is fatal in the neonatal period. There have been no further descriptions in the literature since 1978. Is a True Hereditary disorder of nervous system Inferred relationship Some
Leigh's disease Is a False Hereditary disorder of nervous system Inferred relationship Some
Microcephaly-deafness-intellectual disability syndrome is characterized by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant. Is a False Hereditary disorder of nervous system Inferred relationship Some
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 siblings so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities. Is a True Hereditary disorder of nervous system Inferred relationship Some
Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID). Is a False Hereditary disorder of nervous system Inferred relationship Some
Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three siblings and their mother. Inheritance is autosomal dominant. Is a True Hereditary disorder of nervous system Inferred relationship Some
Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly. Is a True Hereditary disorder of nervous system Inferred relationship Some
X-linked epilepsy-learning disabilities-behaviour disorders syndrome is characterised by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12). Is a True Hereditary disorder of nervous system Inferred relationship Some
Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia. Is a True Hereditary disorder of nervous system Inferred relationship Some
Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid. Is a False Hereditary disorder of nervous system Inferred relationship Some
A rare, autosomal recessive, congenital, cerebellar ataxia disorder characterized by hypotonia from birth, marked psychomotor delay and prominent cerebellar dysfunction (manifesting with nystagmus, intention tremor, dysarthria, ataxic gait and truncal ataxia), described in an isolated population of the Grand Cayman Island. Cerebellar hypoplasia, observed on CT scan, may be associated. Is a False Hereditary disorder of nervous system Inferred relationship Some
A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions. Is a False Hereditary disorder of nervous system Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by lissencephaly, agenesis of the corpus callosum and other cerebral structural anomalies, early-onset intractable seizures, and ambiguous genitalia. Consequences of hypothalamic dysfunction, such as disturbed temperature regulation, may be observed. Additional anomalies including dysmorphic craniofacial features have been reported. The disease is fatal in infancy or childhood in males, while female carriers may be unaffected or show a milder phenotype with developmental delay, behavioral abnormalities, and seizures. Is a True Hereditary disorder of nervous system Inferred relationship Some
Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors. Is a True Hereditary disorder of nervous system Inferred relationship Some
Lissencephaly syndrome, Norman-Roberts type is characterized by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation. Is a True Hereditary disorder of nervous system Inferred relationship Some
Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation. Is a True Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. Is a False Hereditary disorder of nervous system Inferred relationship Some
Non-polyposis Turcot syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance. Is a True Hereditary disorder of nervous system Inferred relationship Some
Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia, characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy. Is a False Hereditary disorder of nervous system Inferred relationship Some
A rare, congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis. Is a True Hereditary disorder of nervous system Inferred relationship Some
A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. Is a True Hereditary disorder of nervous system Inferred relationship Some
A rare, capillary-venous malformations characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages. Is a True Hereditary disorder of nervous system Inferred relationship Some
A rare genetic tremor disorder characterized by recurrent episodes of involuntary tremor of the chin and lower lip due to isolated myoclonus of the mentalis muscle. Patients may represent more severe symptoms such as tongue biting and psychological distress. Even though neurological abnormalities are not associated, occasional involvement of sleep disorders and other facial muscles have been described. Sporadic cases were also reported. Is a True Hereditary disorder of nervous system Inferred relationship Some
Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy. Is a True Hereditary disorder of nervous system Inferred relationship Some
Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypertrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria. Is a True Hereditary disorder of nervous system Inferred relationship Some
Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. Is a True Hereditary disorder of nervous system Inferred relationship Some
Behr syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
A rare X-linked syndromic intellectual disability characterized by infantile-onset non-progressive intellectual deficit (with psychomotor developmental delay, cognitive impairment and macrocephaly) and early-onset parkinsonism (before 45 years of age), in male patients. Is a False Hereditary disorder of nervous system Inferred relationship Some
Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity. Is a True Hereditary disorder of nervous system Inferred relationship Some
Gerstmann-Straussler-Scheinker syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia. Is a False Hereditary disorder of nervous system Inferred relationship Some
Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases. Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis. Is a True Hereditary disorder of nervous system Inferred relationship Some
Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age. Is a True Hereditary disorder of nervous system Inferred relationship Some
An extremely rare genetic syndrome characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. Is a False Hereditary disorder of nervous system Inferred relationship Some
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. Is a True Hereditary disorder of nervous system Inferred relationship Some
Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype. Is a True Hereditary disorder of nervous system Inferred relationship Some
A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and severe cerebral cortical atrophy associated with pontocerebellar hypoplasia with the pons and cerebellum equally affected. Clinically the disorder manifests at birth with hypotonia, clonus, epilepsy, impaired swallowing and from infancy by progressive microcephaly, spasticity and lactic acidosis. Is a True Hereditary disorder of nervous system Inferred relationship Some
Congenital pontocerebellar hypoplasia type 5 (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
A severe, genetic form of pontocerebellar hypoplasia (PCH) characterised by delayed neocortical maturation with underdeveloped cerebral hemispheres and pontocerebellar hypoplasia and a severely affected vermis. Clinically, the disorder manifests with prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death. Is a True Hereditary disorder of nervous system Inferred relationship Some
A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and pontocerebellar hypoplasia with pons and cerebellum equally affected and that clinically manifests with neonatal hypotonia and impaired swallowing followed by seizures, optic atrophy and short stature from infancy onward. Movement disorders, as seen in other forms of PCH, are absent. Is a True Hereditary disorder of nervous system Inferred relationship Some
A severe, genetic form of pontocerebellar hypoplasia (PCH) characterized by spinal cord anterior horn cell degeneration in addition to pontocerebellar hypoplasia. Clinically, patients manifest with a severe global development deficit that is evident early on from difficulties in feeding and swallowing. Is a True Hereditary disorder of nervous system Inferred relationship Some
Pontocerebellar hypoplasia type 8 (PCH8) is a novel very rare form of pontocerebellar hypoplasia characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum. Is a True Hereditary disorder of nervous system Inferred relationship Some
Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterized by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and fetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia. Is a True Hereditary disorder of nervous system Inferred relationship Some
A rare syndromic form of lissencephaly characterized by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. The syndrome may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and fetal akinesia sequence. Is a True Hereditary disorder of nervous system Inferred relationship Some
Lattice corneal dystrophy Type II Is a False Hereditary disorder of nervous system Inferred relationship Some
Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis. Is a True Hereditary disorder of nervous system Inferred relationship Some
A rare, X-linked syndromic intellectual disability disorder characterized by non-progressive ataxia, apraxia, variable intellectual disability and/or visuospatial, visuographic and visuoconstructive dysfunctions in male patients. Seizures, congenital clubfoot and macroorchidism have also been associated. Partial clinical expression was noted in obligate female carriers. There have been no further descriptions in the literature since 1992. Is a False Hereditary disorder of nervous system Inferred relationship Some
An X-linked syndromic intellectual disability characterized by a few months of normal development, followed by progressive neurodegenerative course with gradual loss of vision, development of spastic tetraplegia, convulsions, microcephaly, failure to thrive, and early death. Is a True Hereditary disorder of nervous system Inferred relationship Some
An X-linked syndromic intellectual disability characterized by congenital ataxia and generalized hypotonia, global developmental delay with intellectual disability, myoclonic encephalopathy, progressive neurological deterioration, macular degeneration, and recurrent bronchopulmonary infections. Is a False Hereditary disorder of nervous system Inferred relationship Some
A rare multiple congenital anomalies characterized by the association of Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects (acronym VACTERL) with hydrocephalus. Association with hydrocephalus is relatively rare, may be distinct from VACTERL association in general, and may follow an autosomal recessive pattern of inheritance in some individuals. Is a True Hereditary disorder of nervous system Inferred relationship Some
X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities. Is a True Hereditary disorder of nervous system Inferred relationship Some
syndrome de déficience intellectuelle liée à l'X-agénésie du corps calleux-quadriparésie spastique Is a False Hereditary disorder of nervous system Inferred relationship Some
A rare central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition. Is a True Hereditary disorder of nervous system Inferred relationship Some
An X-linked syndromic intellectual disability characterized by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features. Is a False Hereditary disorder of nervous system Inferred relationship Some
A rare leukoencephalopathy characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability. Is a True Hereditary disorder of nervous system Inferred relationship Some
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. Is a False Hereditary disorder of nervous system Inferred relationship Some
Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait. Is a False Hereditary disorder of nervous system Inferred relationship Some
Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate. Is a False Hereditary disorder of nervous system Inferred relationship Some
Microcephaly-cardiomyopathy syndrome is characterized by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive. Is a False Hereditary disorder of nervous system Inferred relationship Some
Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983. Is a False Hereditary disorder of nervous system Inferred relationship Some
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive. Is a False Hereditary disorder of nervous system Inferred relationship Some
A form of focal dystonia characterized by cervical, laryngeal and hand-forearm dystonia. Is a True Hereditary disorder of nervous system Inferred relationship Some
A rare, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, psychomotor developmental delay, generalized seizures, and psoriasis. Mild craniofacial dysmorphism, such as hypertelorism, broad nasal bridge, anteverted nares, macrostomia, highly arched palate and large ears, is also associated. There have been no further descriptions in the literature since 1988. Is a True Hereditary disorder of nervous system Inferred relationship Some

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