ZFIN Human Disease: congenital myasthenic syndrome 2C

OBO ID: DOID:0110680

Term Name:	congenital myasthenic syndrome 2C		Search Ontology:
Synonyms:	CMS2C congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency
Definition:	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in compound heterozygous mutation in the CHRNB1 gene on chromosome 17p13. (2)
References:	OMIM:616314
Ontology:	Human Disease ( DOID:0110680 )

Relationships

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

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CHRNB1	chrnb1	?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency	616314

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None