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nemaline myopathy 7

http://purl.obolibrary.org/obo/DOID_0110934

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

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Label

nemaline myopathy 7

Synonyms

NEM7
nemaline myopathy 7, autosomal recessive

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disease_ontology

DOID:0110934

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Subclass of:

nemaline myopathy
autosomal recessive disease
has material basis in some autosomal recessive inheritance