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GENATLAS PHENOTYPE

last update : 08-04-2019

Symbol	TRRAPD
Location	7q22.1
Name	TRRAP deficiency
Corresponding gene	TRRAP
Main clinical features	complex, multi-systemic syndrome associated with various malformations of the brain, heart, kidneys, and genitourinary system and characterized by a wide range of intellectual functioning, global developmental delay also autism spectrum disorder (ASD) and/or ID and epilepsy; facial dysmorphism with upslanted palpebral fissures, epicanthus, telecanthus, a wide nasal bridge and ridge, a broad and smooth philtrum, and a thin upper lip
Genetic determination	not applicable
Function/system disorder	mental retardation
	neurology
	cardiovascular
Type	disease

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