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255399007: Congenital (qualifier value)

Status: current, Not 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
380598010 Congenital en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
380599019 Congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life false Inferred relationship Some
Congenital Is a Fetal and/or neonatal period true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated. Occurrence True Congenital Inferred relationship Some 2
12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated. Occurrence False Congenital Inferred relationship Some 3
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Occurrence False Congenital Inferred relationship Some 6
A rare multiple congenital anomalies syndrome characterised by variable skeletal abnormalities (including craniostenosis, pectus carinatum, short sternum, joint hyperextensibility, and abnormal vertebrae), cutis laxa with excessive skin folds around the cheek, chin and neck, ambiguous genitalia with a micropenis and perineal hypospadia, an umbilical hernia, intellectual disability, premature aged appearance, and cardiac enlargement involving either the ventricles or atria. Facial dysmorphism is variable and can include multiple hair whorls, ptosis, high and broad nasal root, low set ears and small chin. Enamel hypocalcification, abnormal modelling of tubular bones, and reduced cutis laxa may become apparent later on. Occurrence True Congenital Inferred relationship Some 5
A rare multiple congenital anomalies syndrome characterised by variable skeletal abnormalities (including craniostenosis, pectus carinatum, short sternum, joint hyperextensibility, and abnormal vertebrae), cutis laxa with excessive skin folds around the cheek, chin and neck, ambiguous genitalia with a micropenis and perineal hypospadia, an umbilical hernia, intellectual disability, premature aged appearance, and cardiac enlargement involving either the ventricles or atria. Facial dysmorphism is variable and can include multiple hair whorls, ptosis, high and broad nasal root, low set ears and small chin. Enamel hypocalcification, abnormal modelling of tubular bones, and reduced cutis laxa may become apparent later on. Occurrence False Congenital Inferred relationship Some 6
A rare multiple congenital anomalies syndrome characterised by variable skeletal abnormalities (including craniostenosis, pectus carinatum, short sternum, joint hyperextensibility, and abnormal vertebrae), cutis laxa with excessive skin folds around the cheek, chin and neck, ambiguous genitalia with a micropenis and perineal hypospadia, an umbilical hernia, intellectual disability, premature aged appearance, and cardiac enlargement involving either the ventricles or atria. Facial dysmorphism is variable and can include multiple hair whorls, ptosis, high and broad nasal root, low set ears and small chin. Enamel hypocalcification, abnormal modelling of tubular bones, and reduced cutis laxa may become apparent later on. Occurrence False Congenital Inferred relationship Some 7
A rare multiple congenital anomalies syndrome characterised by variable skeletal abnormalities (including craniostenosis, pectus carinatum, short sternum, joint hyperextensibility, and abnormal vertebrae), cutis laxa with excessive skin folds around the cheek, chin and neck, ambiguous genitalia with a micropenis and perineal hypospadia, an umbilical hernia, intellectual disability, premature aged appearance, and cardiac enlargement involving either the ventricles or atria. Facial dysmorphism is variable and can include multiple hair whorls, ptosis, high and broad nasal root, low set ears and small chin. Enamel hypocalcification, abnormal modelling of tubular bones, and reduced cutis laxa may become apparent later on. Occurrence False Congenital Inferred relationship Some 8
Glucocorticoid deficiency with achalasia Occurrence True Congenital Inferred relationship Some 3
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Occurrence False Congenital Inferred relationship Some 7
Hereditary isolated hypoparathyroidism due to agenesis of parathyroid gland (disorder) Occurrence False Congenital Inferred relationship Some 2
A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities. Occurrence False Congenital Inferred relationship Some 5
A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities. Occurrence False Congenital Inferred relationship Some 6
A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities. Occurrence True Congenital Inferred relationship Some 7
Pyridoxine-dependent epilepsy (disorder) Occurrence True Congenital Inferred relationship Some 4
Pyridoxine-dependent epilepsy (disorder) Occurrence True Congenital Inferred relationship Some 5
Congenital hydrothorax (disorder) Occurrence True Congenital Inferred relationship Some 1
Tracheo-esophageal fistula without atresia of esophagus Occurrence False Congenital Inferred relationship Some 3
Tracheo-esophageal fistula without atresia of esophagus Occurrence False Congenital Inferred relationship Some 4
A rare late-onset neurodegenerative disease characterised by ocular motor dysfunction, postural instability, akinesia-rigidity, and cognitive dysfunction. Occurrence False Congenital Inferred relationship Some 2
A rare late-onset neurodegenerative disease characterised by ocular motor dysfunction, postural instability, akinesia-rigidity, and cognitive dysfunction. Occurrence False Congenital Inferred relationship Some 3
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterized by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait. Occurrence True Congenital Inferred relationship Some 3
Congenital porencephalic cyst (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of right optic nerve (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of left optic nerve (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of bilateral optic nerves (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital hypoplasia of bilateral optic nerves (disorder) Occurrence True Congenital Inferred relationship Some 3
Imperforate hymen Occurrence False Congenital Inferred relationship Some 2
Cyst of female mesonephric duct Occurrence False Congenital Inferred relationship Some 2
Congenital anomaly of mother complicating pregnancy (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital anomaly of vagina in mother complicating pregnancy Occurrence True Congenital Inferred relationship Some 2
Congenital anomaly of vulva in mother complicating pregnancy (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital chorioretinal coloboma of right eye (disorder) Occurrence False Congenital Inferred relationship Some 3
Congenital chorioretinal coloboma of left eye (disorder) Occurrence False Congenital Inferred relationship Some 3
Congenital chorioretinal coloboma of bilateral eyes (disorder) Occurrence False Congenital Inferred relationship Some 5
Nonruptured congenital aneurysm of cerebral artery Occurrence False Congenital Inferred relationship Some 1
Chromosome 1p36 deletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation. Occurrence True Congenital Inferred relationship Some 2
Congenital anomaly of bone of shoulder girdle (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital deformity of toe (disorder) Occurrence True Congenital Inferred relationship Some 1
This disease is characterized by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter. Occurrence True Congenital Inferred relationship Some 2
Congenital onychoatrophy (disorder) Occurrence False Congenital Inferred relationship Some 2
Congenital mandibular asymmetry Occurrence True Congenital Inferred relationship Some 1
A disorder of glyoxylate metabolism that can be asymptomatic or have manifestation of oxalate nephrolithiasis. This disease has a less severe course that primary hyperoxaluria type 1 or type 2, and may be silent or limited to stone formation, sometimes even improving over time. While hyperoxaluria persists in primary hyperoxaluria type 3, nephrocalcinosis and chronic kidney failure are uncommon and systemic involvement has not been reported so far. Caused by mutations in the 4-hydroxy-2-oxoglutarate aldolase 1 (HOGA1) gene located to 10q24.1. Transmission is autosomal recessive Occurrence True Congenital Inferred relationship Some 1
Elongated left ramus of mandible Occurrence True Congenital Inferred relationship Some 1
Elongated right ramus of mandible Occurrence True Congenital Inferred relationship Some 1
Myelomeningocele co-occurrent with hydrocephalus (disorder) Occurrence False Congenital Inferred relationship Some 6
Myelomeningocele co-occurrent with hydrocephalus (disorder) Occurrence False Congenital Inferred relationship Some 8
Myelomeningocele co-occurrent with hydrocephalus (disorder) Occurrence False Congenital Inferred relationship Some 9
Myelomeningocele co-occurrent with hydrocephalus (disorder) Occurrence False Congenital Inferred relationship Some 10
Neonatal intestinal perforation co-occurrent and due to intestinal atresia (disorder) Occurrence False Congenital Inferred relationship Some 3
Neonatal intestinal perforation co-occurrent and due to in utero intraluminal obstruction (disorder) Occurrence False Congenital Inferred relationship Some 3
HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy. Occurrence False Congenital Inferred relationship Some 1
Simple syndactyly of toes of bilateral feet (disorder) Occurrence True Congenital Inferred relationship Some 2
Simple syndactyly of toes of bilateral feet (disorder) Occurrence False Congenital Inferred relationship Some 3
Neonatal intestinal perforation co-occurrent and due to congenital intestinal stenosis Occurrence False Congenital Inferred relationship Some 4
Symptomatic late congenital syphilis Occurrence False Congenital Inferred relationship Some 1
Fetal genitourinary abnormality (disorder) Occurrence False Congenital Inferred relationship Some 2
Congenital atresia of left external ear (disorder) Occurrence True Congenital Inferred relationship Some 1
Fundus coloboma Occurrence True Congenital Inferred relationship Some 1
Coloboma of choroid Occurrence True Congenital Inferred relationship Some 1
Congenital chorioretinal coloboma of right eye (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital chorioretinal coloboma of left eye (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital chorioretinal coloboma of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital chorioretinal coloboma of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 2
Fetal malformation of central nervous system Occurrence False Congenital Inferred relationship Some 2
A spectrum of diseases with manifestation of overgrowth that results from somatic activating mutations in the phosphatidylinositol-3-kinase/AKT/mTOR pathway. Occurrence True Congenital Inferred relationship Some 1
Hereditary spastic paraplegia Occurrence False Congenital Inferred relationship Some 2
Hereditary sensory-motor neuropathy, type V Occurrence False Congenital Inferred relationship Some 1
Pure hereditary spastic paraplegia Occurrence False Congenital Inferred relationship Some 2
Complicated hereditary spastic paraplegia Occurrence False Congenital Inferred relationship Some 2
Infantile ascending hereditary spastic paralysis (disorder) Occurrence False Congenital Inferred relationship Some 1
Spastic paraplegia type 15 Occurrence False Congenital Inferred relationship Some 1
A complex hereditary spastic paraplegia characterized by progressive lower limbs weakness and spasticity, upper limbs weakness, dysarthria, hypomimia, sphincter disturbances, peripheral neuropathy, learning difficulties, cognitive impairment and dementia. Magnetic resonance imaging shows thin corpus callosum, cerebral atrophy, and periventricular white matter changes. Occurrence False Congenital Inferred relationship Some 1
A form of hereditary spastic ataxia characterised by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity and sometimes predominant cerebellar ataxia. In addition to frequent sphincter dysfunction and decreased vibratory sense at the ankles, manifestations may include optical neuropathy, nystagmus, blepharoptosis, ophthalmoplegia, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, muscle atrophy, parkinsonism, and dystonia. Occurrence False Congenital Inferred relationship Some 1
Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive. Occurrence False Congenital Inferred relationship Some 1
A rare genetic neurological disorder characterized by infantile to childhood onset of progressive sensory neuropathy in association with spastic paraplegia and mutilating acropathy. Patients present lower limb spasticity and progressive severe sensory loss leading to chronic ulcerations in both upper and lower limbs. Electrophysiological studies are consistent with axonal sensory neuropathy, and nerve biopsy shows axonopathy with loss of myelinated nerve fibers of all diameters as well as of unmyelinated axons. Occurrence False Congenital Inferred relationship Some 1
A rare autosomal recessive complex spastic paraplegia characterized by upper motor neuron involvement and peripheral neuropathy with an onset between childhood and early adulthood. Patients present with progressive spasticity, hyperreflexia, and distal upper and lower muscle wasting. Reduced cognitive functioning and cerebellar ataxia have also been reported. MR imaging may reveal cerebellar and/or spinal cord atrophy. Occurrence False Congenital Inferred relationship Some 1
A rare, X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG. Occurrence False Congenital Inferred relationship Some 1
A complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy. Occurrence False Congenital Inferred relationship Some 1
A rare form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset. Occurrence False Congenital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 44 (SPG44) is a very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein. Occurrence False Congenital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 46 (SPG46) is a rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase. Occurrence False Congenital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 53 (SPG53) is a very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A. Occurrence False Congenital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 54 (SPG54) is a rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2. Occurrence False Congenital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 55 (SPG 55) is a rare, complex type of hereditary spastic paraplegia characterized by childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities, and sensorimotor neuropathy. SPG55 is caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial. Occurrence False Congenital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 57 (SPG57) is an extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function. Occurrence False Congenital Inferred relationship Some 1
A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. Occurrence False Congenital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21. Occurrence False Congenital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 26 (SPG26) is a rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1. Occurrence False Congenital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with sharp features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32. Occurrence False Congenital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 64 is an extremely rare and complex form of hereditary spastic paraplegia, reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1. Occurrence False Congenital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 63 (SPG63) is an extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2. Occurrence False Congenital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 61 (SPG61) is a rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1. Occurrence False Congenital Inferred relationship Some 1
Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported. Occurrence False Congenital Inferred relationship Some 1
Autosomal spastic paraplegia type 18 (SPG18) is a rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2. Occurrence False Congenital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disc herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1. Occurrence False Congenital Inferred relationship Some 1
A rare, hereditary spastic paraplegia that can present as either a pure or complex phenotype. The pure form is characterized by lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence. The complex form is characterized by the association with additional manifestations including peripheral neuropathy with upper limb muscle atrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa have also been reported. Occurrence False Congenital Inferred relationship Some 1
A rare, pure or complex form of hereditary spastic paraplegia typically characterized by presentation in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment. Occurrence False Congenital Inferred relationship Some 1
Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983. Occurrence False Congenital Inferred relationship Some 1
A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia. Occurrence False Congenital Inferred relationship Some 1
Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988. Occurrence False Congenital Inferred relationship Some 1

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