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GENATLAS PHENOTYPE

last update : 08-06-2021

Symbol	HAAD
Location	15q24.1
Name	hydrocephalus, arthrogryposis and abdominal distension
Corresponding gene	ISLR2
Main clinical features	congenital hydrocephalus, arthrogryposis multiplex congenita and abdominal distension
Genetic determination
Function/system disorder	neuromuscular
	neurology
Type	disease

Remark(s)

. homozygous truncating variant in ISLR2 segregates with HAAD (PMID: 30483960))