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GENATLAS PHENOTYPE

last update : 10-09-2019

Symbol	PIGBD
Location	16q21.3
Name	phosphatidylinositol glycan, class B deficiency
Other name(s)	epileptic encephalopathy, early infantile, 80
Corresponding gene	PIGB
Other symbol(s)	EIEE80
Main clinical features	global developmental and/or intellectual delay, seizures, frequent polymicrogyria, and peripheral neuropathy, facial dysmorphy neurological abnormalities including axonal degenerative polyneuropathy and demyelinating sensorimotor polyneuropathy, hearing loss, and visual impairment most individuals tested showed elevated alkaline phosphatase, which is a characteristic of the inherited GPI deficiency
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	dermatology
	neurology
	osteo-articular
Type	disease

Remark(s)