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Echinobase
Summary Literature (0)
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,

Echinobase Genes :


OMIM:
MIM:612540 - myopathy, congenital, compton-north; mypcn

Other Model Organisms: AGR, 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)