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X-linked complicated corpus callosum dysgenesis
1 OMIM reference -
1 associated gene
15 connected diseases
8 signs/symptoms
Disease Type of connection
Hirschsprung disease
Hydrocephalus with stenosis of aqueduct of Sylvius
MASA syndrome
X-linked complicated spastic paraplegia type 1
Benign adult familial myoclonic epilepsy
Familial Alzheimer-like prion disease
Fatal familial insomnia
Gerstmann-Straussler-Scheinker syndrome
Huntington disease-like 1
Inherited Creutzfeldt-Jakob disease
8p11.2 deletion syndrome
Hereditary spherocytosis
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Congenital lethal myopathy, Compton-North type
Romano-Ward syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
L1CAM P32004308840
Very frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Seizures / epilepsy / absences / spasms / status epilepticus
- X-linked recessive inheritance

Frequent
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Hypertonia / spasticity / rigidity / stiffness
- Microcephaly
- Muscle weakness / flaccidity

Occasional
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease