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Congenital lethal myopathy, Compton-North type
1 OMIM reference -
1 associated gene
28 connected diseases
No signs/symptoms info
Disease Type of connection
Benign adult familial myoclonic epilepsy
Acroosteolysis dominant type
Alagille syndrome due to a NOTCH2 point mutation
Brugada syndrome
Dravet syndrome
Familial atrial fibrillation
Familial progressive cardiac conduction defect
Generalized epilepsy with febrile seizures-plus context
Intellectual deficiency - hypotonia - spasticity - sleep disorder
Huntington disease
Juvenile Huntington disease
Combined pituitary hormone deficiencies, genetic forms
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Panhypopituitarism
Generalized pseudohypoaldosteronism type 1
Idiopathic bronchiectasis
Liddle syndrome
Familial Alzheimer-like prion disease
Fatal familial insomnia
Gerstmann-Straussler-Scheinker syndrome
Huntington disease-like 1
Inherited Creutzfeldt-Jakob disease
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Hirschsprung disease
Hydrocephalus with stenosis of aqueduct of Sylvius
MASA syndrome
X-linked complicated corpus callosum dysgenesis
X-linked complicated spastic paraplegia type 1
Synonym(s):
(no synonyms)
Classification (Orphanet):
- 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: before age 5
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
CNTN1 Q12860600016
No signs/symptoms info available.