ZFIN Human Disease: multiple congenital anomalies-hypotonia-seizures syndrome 4

OBO ID: DOID:0112213

Term Name:	multiple congenital anomalies-hypotonia-seizures syndrome 4		Search Ontology:
Synonyms:	DEE77 developmental and epileptic encephalopathy 77 early infantile epileptic encephalopathy 77 glycosylphosphatidylinositol biosynthesis defect 19 GPIBD19 MCAHS4
Definition:	A multiple congenital anomalies-hypotonia-seizures syndrome characterized by onset in the first months of life of refractory seizures and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PIGQ gene on chromosome 16p13.3. (2)
References:	OMIM:618548
Ontology:	Human Disease ( DOID:0112213 )

Relationships

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

OTHER multiple congenital anomalies-hypotonia-seizures syndrome 4 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PIGQ	pigq	Multiple congenital anomalies-hypotonia-seizures syndrome 4	618548

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None