ZFIN Human Disease: congenital myasthenic syndrome 22

OBO ID: DOID:0080587

Term Name:	congenital myasthenic syndrome 22		Search Ontology:
Synonyms:
Definition:	A congenital myasthenic syndrome characterized by neonatal hypotonia, neonatal feeding problems, and nasal dysarthria and that has_material_basis_in homozygous or compound heterozygous mutation in the PREPL gene on chromosome 2p21. https://www.ncbi.nlm.nih.gov/pubmed/28726805
References:	OMIM:616224
Ontology:	Human Disease ( DOID:0080587 )

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 22 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PREPL	prepl	Myasthenic syndrome, congenital, 22	616224

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None