| Metadata | |
|---|---|
| ID | DOID:0081345 |
| Name | congenital myopathy 10B |
| Definition | A congenital myopathy that is characterized by infantile- or childhood-onset myopathy, areflexia, dysphagia, and respiratory distress that usually requires nocturnal ventilation and that has_material_basis_in homozygous or compound heterozygous mutation in the MEGF10 gene on chromosome 5q23. Biallelic mutation in the MEGF10 gene also causes a more severe congenital myopathy with overlapping features. https://pubmed.ncbi.nlm.nih.gov/29128256/ |
| Xrefs | |
| Parent Relationships |
is_a autosomal recessive disease is_a congenital myopathy |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |