ZFIN Human Disease: developmental and epileptic encephalopathy 80

OBO ID: DOID:0112216

Term Name:	developmental and epileptic encephalopathy 80		Search Ontology:
Synonyms:	DEE80 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20 GPIBD20
Definition:	A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory seizures, severe global developmental delay, and defective synthesis of glycosylphosphatidylinositol that has_material_basis_in homozygous or compound heterozygous mutation in the PIGB gene on chromosome 15q21.3. https://pubmed.ncbi.nlm.nih.gov/31256876/
References:	OMIM:618580
Ontology:	Human Disease ( DOID:0112216 )

Relationships

is a type of:	autosomal recessive disease developmental and epileptic encephalopathy autosomal recessive disease developmental and epileptic encephalopathy Show first 5 Terms

OTHER developmental and epileptic encephalopathy 80 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PIGB	pigb	Developmental and epileptic encephalopathy 80	618580

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None