ZFIN Human Disease: congenital myasthenic syndrome 4C

OBO ID: DOID:0110679

Term Name:	congenital myasthenic syndrome 4C		Search Ontology:
Synonyms:	CMS Id CMS1D CMS4C congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency congenital myasthenic syndrome type Id FIM1
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 homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. (2)
References:	OMIM:608931
Ontology:	Human Disease ( DOID:0110679 )

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
CHRNE	chrne	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	608931

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None