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Congenital myopathy, Paradas type

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Corpus callosum agenesis - neuronopathy

1 OMIM reference -
1 associated gene
14 signs/symptoms

Congenital myopathy, Paradas type

Corpus callosum agenesis - neuronopathy

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	DYSF	(0.63)	SLC12A6

Citations in the biomedical literature:

Congenital myopathy, Paradas type		Corpus callosum agenesis - neuronopathy
	Synonym(s): (no synonyms)		Synonym(s): - Andermann syndrome - Charlevoix disease

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: (no data available)		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: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536446

Corpus callosum agenesis - neuronopathy
	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
Congenital myopathy, Paradas type
(no data available)