NEMALINE MYOPATHY 8

NEM8

http://purl.bioontology.org/ontology/OMIM/615348

NEM8

C3809209

3p22.1

NEM8

KLHL40

SYRP

KBTBD5

http://purl.bioontology.org/ontology/OMIM/MTHU041838

http://purl.bioontology.org/ontology/OMIM/MTHU036957

http://purl.bioontology.org/ontology/OMIM/MTHU000766

http://purl.bioontology.org/ontology/OMIM/MTHU069639

http://purl.bioontology.org/ontology/OMIM/MTHU001204

http://purl.bioontology.org/ontology/OMIM/MTHU007831

http://purl.bioontology.org/ontology/OMIM/MTHU042425

http://purl.bioontology.org/ontology/OMIM/MTHU069637

http://purl.bioontology.org/ontology/OMIM/MTHU069640

http://purl.bioontology.org/ontology/OMIM/MTHU001543

http://purl.bioontology.org/ontology/OMIM/MTHU069638

http://purl.bioontology.org/ontology/OMIM/MTHU069636

http://purl.bioontology.org/ontology/OMIM/MTHU056249

http://purl.bioontology.org/ontology/OMIM/MTHU068133

http://purl.bioontology.org/ontology/OMIM/MTHU036439

Phenotype description, molecular basis known.

615348

3

pound

NEMALINE MYOPATHY 8

Caused by mutation in the Kelch-like 40 gene (KLHL40, 615340.0001). [MOLECULAR BASIS]

Onset in utero [MISCELLANEOUS]

Severe phenotype [MISCELLANEOUS]

Death often occurs in infancy [MISCELLANEOUS]

T047