Disease #03901 (NEM8 (myopathy, nemaline, type 8 (NEM-8)), OMIM:615348)

Official abbreviation NEM8
Name myopathy, nemaline, type 8 (NEM-8)
OMIM ID 615348
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene KLHL40
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

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00079710 Fam20 PubMed: Todd 2015 2-generation family, 1 affected, unaffected untested carrier parents M yes - - - - - - NEM8 Familial, autosomal recessive KLHL40 KLHL40 1 1 Gianina Ravenscroft
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