ZFIN Human Disease: multiple congenital anomalies-hypotonia-seizures syndrome 2

OBO ID: DOID:0080139

Term Name:	multiple congenital anomalies-hypotonia-seizures syndrome 2		Search Ontology:
Synonyms:	developmental and epileptic encephalopathy 20
Definition:	A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22. (2)
References:	GARD:12777 OMIM:300868 ORDO:300496
Ontology:	Human Disease ( DOID:0080139 )

Relationships

is a type of:	multiple congenital anomalies-hypotonia-seizures syndrome X-linked recessive disease multiple congenital anomalies-hypotonia-seizures syndrome X-linked recessive disease Show first 5 Terms

OTHER multiple congenital anomalies-hypotonia-seizures syndrome 2 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PIGA	piga	Multiple congenital anomalies-hypotonia-seizures syndrome 2	300868

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None