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GENATLAS PHENOTYPE

last update : 06-10-2014

Symbol	AOS5
Location	9q34.3
Name	Adams-Oliver syndrome 5
Corresponding gene	NOTCH1
Main clinical features	aplasia cutis of the scalp and terminal transverse limb defects amputations, syndactyly, brachydactyly, or oligodactyly, vascular anomalies, such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypovascularization
Genetic determination	autosomal recessive
Prevalence	the most common cause of AOS
Function/system disorder	dermatology
	osteo-articular
Type	disease

Remark(s)