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Congenital lethal myopathy, Compton-North type

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
12 signs/symptoms

Congenital lethal myopathy, Compton-North type

MASA syndrome

(UniProt - OMIM)

(UniProt - OMIM)


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		MASA syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Intellectual defici-aphasia-shuffling gait-adducted thumbs syndrome

	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: 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: unknown Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: x-linked recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536029

MASA syndrome
	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
Congenital lethal myopathy, Compton-North type
(no data available)