| Metadata | |
|---|---|
| ID | DOID:0080101 |
| Name | Compton-North congenital myopathy |
| 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/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
congenital myopathy 12 [EXACT] |
| Parent Relationships |
is_a autosomal recessive disease is_a congenital myopathy is_a physical disorder |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth has symptom some muscle weakness |