Search Ontology:
Human Disease
Compton-North congenital myopathy
- Term ID
- DOID:0080101
- Synonyms
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- congenital myopathy 12
- 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
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- MIM:612540
- ORDO:210163
- Ontology
- Human Disease ( DOID:0080101 )
- is a type of
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Genes Involved
Zebrafish Models