OBO ID: DOID:0080101
Term Name: Compton-North congenital myopathy Search Ontology:
Synonyms:
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/
References:
Ontology: Human Disease   (DOID:0080101)
OTHER Compton-North congenital myopathy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CNTN1 ?Myopathy, congenital, Compton-North 612540
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None