Compton-North congenital myopathy

Summary

DOID:0080101 - Compton-North congenital myopathy

Disease Ontology 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.

Synonyms: congenital myopathy 12

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: cntn1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012929 - Compton-North congenital myopathy

MONDO:0012929 - Compton-North congenital myopathy

MIM:

MIM:612540 - CONGENITAL MYOPATHY 12; CMYO12

MIM:612540 - CONGENITAL MYOPATHY 12; CMYO12

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), congenital myopathy (is_a), physical disorder (is_a)