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Metadata
ID DOID:0080101
Name Compton-North congenital myopathy
Definition A congenital myopathy that has_material_basis_in homozygous mutation in the CNTN1 gene on chromosome 12q12 and that is characterized antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels.
https://pubmed.ncbi.nlm.nih.gov/19026398/
Xrefs

MIM:612540

ORDO:210163

Subsets

DO_rare_slim

Synonyms

congenital myopathy 12 [EXACT]

Parent Relationships

is_a congenital myopathy

is_a physical disorder

is_a autosomal recessive disease

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