ZFIN Human Disease: congenital myasthenic syndrome 15

OBO ID: DOID:0110658

Term Name:	congenital myasthenic syndrome 15		Search Ontology:
Synonyms:	CMS15 congenital myasthenic syndrome 15 without tubular aggregates
Definition:	A congenital myasthenic syndrome characterized by onset of progressive fatigable proximal muscle weakness in childhood that has_material_basis_in compound heterozygous mutation in the ALG14 gene on chromosome 1p21. https://www.ncbi.nlm.nih.gov/pubmed/23404334
References:	OMIM:616227
Ontology:	Human Disease ( DOID:0110658 )

Relationships

is a type of:	autosomal recessive disease congenital myasthenic syndrome autosomal recessive disease congenital myasthenic syndrome Show first 5 Terms

OTHER congenital myasthenic syndrome 15 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ALG14	alg14	?Myasthenic syndrome, congenital, 15, without tubular aggregates	616227

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None