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MASA syndrome
1 OMIM reference -
1 associated gene
15 connected diseases
12 signs/symptoms
Disease Type of connection
Hirschsprung disease
Hydrocephalus with stenosis of aqueduct of Sylvius
X-linked complicated corpus callosum dysgenesis
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):
- Intellectual defici-aphasia-shuffling gait-adducted thumbs syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
1 MeSH reference: C536029
Gene symbol UniProt reference OMIM reference
L1CAM P32004308840
Very frequent
- Abnormal gait
- Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypereflexia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Short stature / dwarfism / nanism
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- X-linked recessive inheritance

Frequent
- Camptodactyly of fingers
- Clinodactyly of fifth finger

Occasional
- Corpus callosum / septum pellucidum total / partial agenesis
- Dilated cerebral ventricles without hydrocephaly