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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:

In OMIM:
OMIM:612540 - MYOPATHY, CONGENITAL, COMPTON-NORTH; MYPCN

In Mondo Disease Ontology:
MONDO:0012929 - Compton-North congenital myopathy

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : cntn1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal recessive disease (is_a), congenital myopathy (is_a)