| Metadata | |
|---|---|
| ID | DOID:0110930 |
| Name | nemaline myopathy 8 |
| Definition | A nemaline myopathy characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL40 gene on chromosome 3p22. https://www.ncbi.nlm.nih.gov/pubmed/23746549 |
| Xrefs | |
| Synonyms |
NEM8 [EXACT] nemaline myopathy 8, autosomal recessive [EXACT] |
| Parent Relationships |
is_a nemaline myopathy |