| Metadata | |
|---|---|
| ID | DOID:0111226 |
| Name | X-linked congenital myopathy with fiber-type disproportion |
| Definition | A congenital fiber-type disproportion characterized by bilateral ptosis, facial weakness, impaired suckling, generalized hypotonia, and respiratory insufficiency that has_material_basis_in mutation in the chromosome region Xq13.1-q22.1. https://www.ncbi.nlm.nih.gov/pubmed/16173074 |
| Xrefs | |
| Synonyms |
CFTDX [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has symptom some ptosis has symptom some facial weakness disease has basis in some Abnormality of prenatal development or birth |