ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
16 signs/symptoms

Congenital lethal myopathy, Compton-North type

Hydrocephalus with stenosis of aqueduct of Sylvius


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CNTN1	(0.52)	L1CAM

Citations in the biomedical literature:

Congenital lethal myopathy, Compton-North type		Hydrocephalus with stenosis of aqueduct of Sylvius
	Synonym(s): (no synonyms)		Synonym(s): - Bickers-Adams syndrome - HSAS - X-linked HSAS - X-linked acqueductal stenosis - X-linked hydrocephalus with stenosis of aqueduct of Sylvius

	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): - Congenital malformations, deformations and chromosomal abnormalities -

	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		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references

Hydrocephalus with stenosis of aqueduct of Sylvius
	Very frequent - Cranial hypertension - Hemiplegia / diplegia / hemiparesia / limb palsy - Hydrocephaly - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Stenosis of aqueduc of Sylvius - X-linked recessive inheritance Frequent - Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large Occasional - Autosomal recessive inheritance - Coarse face - Corpus callosum / septum pellucidum total / partial agenesis - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Nystagmus - Restricted joint mobility / joint stiffness / ankylosis - Seizures / epilepsy / absences / spasms / status epilepticus - Strabismus / squint
Congenital lethal myopathy, Compton-North type
(no data available)