Visualize Submit Comment

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	MESH:C565198 MIM:610687
Synonyms	NEM7 [EXACT] nemaline myopathy 7, autosomal recessive [EXACT]
Parent Relationships	is_a nemaline myopathy is_a autosomal recessive disease