Visualize Submit Comment

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	OMIM: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