Version: 8.0.0
Date: Tue Jan 28 2025
nemaline myopathy 8
DOID:0110930
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
  • NEM8
  • nemaline myopathy 8, autosomal recessive
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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