Terminology Service for NFDI4Health

nemaline myopathy 8

Go to external page http://purl.obolibrary.org/obo/DOID_0110930


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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

nemaline myopathy 8

Synonyms
  • NEM8
  • nemaline myopathy 8, autosomal recessive
database cross reference
has obo namespace

disease_ontology

id

DOID:0110930