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GENATLAS PHENOTYPE

last update : 27-01-2017

Symbol	HPS10
Location	19p13.3
Name	Hermansky-Pudlak syndrome 10
Corresponding gene	AP3D1
Main clinical features	multisystem disorder characterized by infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures albinism, neutropenia, immunodeficiency, neurodevelopmental delay, generalized seizures, and impaired hearing
Genetic determination	autosomal recessive
Function/system disorder	dermatology
	defense and immunity
	neurology
	ear
Type	disease

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