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GENATLAS PHENOTYPE

last update : 23-06-2020

Symbol	BDIAS
Location	5q15
Name	Blue diaper syndrome
Corresponding gene	PCSK1
Other symbol(s)	BDS
Main clinical features	rare disorder; characteristic finding is a bluish discoloration of urine spots in the diapers of affected infants clinical features included diarrhea, inadequate weight gain, hypercalcemia, and nephrocalcinosis
Genetic determination	autosomal recessive
Function/system disorder	metabolism/aminoacids
Type	disease

Remark(s)