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developmental and epileptic encephalopathy 55

Summary

Synonym

DEE55
GPIBD14
early infantile epileptic encephalopathy 55
glycosylphosphatidylinositol biosynthesis defect 14

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.

Super Class

autosomal recessive disease developmental and epileptic encephalopathy

External Links

Disease Ontology

DOID:0080283

Mondo Disease Ontology

MONDO:0033364

OMIM

617599

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
51227	PIGP	phosphatidylinositol glycan anchor biosynthesis class P	DisGeNET Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
56176	Pigp	phosphatidylinositol glycan anchor biosynthesis, class P	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
852047	GPI19	phosphatidylinositol N-acetylglucosaminyltransferase GPI19	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **31 - 40** of 71 in total

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HPO ID	HPO Term
HP:0002360	Sleep abnormality
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
HP:0002376	Developmental regression
HP:0002421	Poor head control
HP:0002506	Diffuse cerebral atrophy
HP:0002521	Hypsarrhythmia
HP:0005280	Depressed nasal bridge
HP:0007204	Diffuse white matter abnormalities
HP:0007359	Focal-onset seizure
HP:0008947	Infantile muscular hypotonia