ZFIN Human Disease: congenital myasthenic syndrome 14

OBO ID: DOID:0110669

Term Name:	congenital myasthenic syndrome 14		Search Ontology:
Synonyms:	CMS14 CMSTA3 congenital myasthenic syndrome 14, with tubular aggregates congenital myasthenic syndrome with tubular aggregates 3
Definition:	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22. (2)
References:	OMIM:616228
Ontology:	Human Disease ( DOID:0110669 )

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 14 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ALG2	alg2	Myasthenic syndrome, congenital, 14, with tubular aggregates	616228

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None