Disease #03901

Official abbreviation NEM-8
Name myopathy, nemaline, type 8 (NEM-8)
OMIM ID 615348
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene KLHL40
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Individuals

1 entry on 1 page. Showing entry 1.
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00079710 Fam20 PubMed: Todd 2015 2-generation family, 1 affected, unaffected untested carrier parents M yes ? (unknown) - - 0 - - NEM-8 Familial, autosomal recessive KLHL40 KLHL40 1 1 Gianina Ravenscroft & Nigel Laing
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