| Metadata | |
|---|---|
| ID | DOID:0061260 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061260 Copy |
| Name | congenital myopathy 29 |
| Definition | A congenital myopathy characterized by hypotonia, distal joint contractures, and early respiratory and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the dystonin gene on chromosome 6p12. https://pubmed.ncbi.nlm.nih.gov/40497796/ |
| Xrefs | |
| Synonyms |
congenital myopathy 28 with contractures [EXACT] |
| Parent Relationships |
is_a congenital myopathy |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |