ZFIN Human Disease: developmental and epileptic encephalopathy 55

OBO ID: DOID:0080283

Term Name:	developmental and epileptic encephalopathy 55		Search Ontology:
Synonyms:	DEE55 early infantile epileptic encephalopathy 55 glycosylphosphatidylinositol biosynthesis defect 14 GPIBD14
Definition:	A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has_material_basis_in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22. (2)
References:	OMIM:617599
Ontology:	Human Disease ( DOID:0080283 )

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 55 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PIGP	pigp	Developmental and epileptic encephalopathy 55	617599

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None