| Metadata | |
|---|---|
| ID | DOID:0110934 |
| Name | nemaline myopathy 7 |
| Definition | A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13. https://www.ncbi.nlm.nih.gov/pubmed/17160903, https://www.ncbi.nlm.nih.gov/pubmed/22560515 |
| Xrefs | |
| Synonyms |
NEM7 [EXACT] nemaline myopathy 7, autosomal recessive [EXACT] |
| Parent Relationships |
is_a autosomal recessive disease is_a nemaline myopathy |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |