Metadata | |
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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 autosomal recessive disease is_a nemaline myopathy |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |