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Corpus callosum agenesis - neuronopathy
1 OMIM reference -
1 associated gene
4 connected diseases
14 signs/symptoms
Disease Type of connection
Autosomal recessive limb-girdle muscular dystrophy type 2B
Congenital myopathy, Paradas type
Distal myopathy with anterior tibial onset
Miyoshi myopathy
Synonym(s):
- Andermann syndrome
- Charlevoix disease
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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C536446
Gene symbol UniProt reference OMIM reference
SLC12A6 Q9UHW9604878
Very frequent
- Autosomal recessive inheritance
- Corpus callosum / septum pellucidum total / partial agenesis
- EEG anomalies
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Seizures / epilepsy / absences / spasms / status epilepticus

Frequent
- Stenosis of aqueduc of Sylvius

Occasional
- Craniostenosis / craniosynostosis / sutural synostosis
- Myopia
- Nystagmus
- Retinitis pigmentosa / retinal pigmentary changes
- Strabismus / squint
- Turricephaly / oxycephaly / acrocephaly