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GENATLAS PHENOTYPE

last update : 17-01-2020

Symbol	CAKUTHED
Location	1q23.3
Name	congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Corresponding gene	PBX1
Main clinical features	variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear, often with hearing loss multiple congenital defects including congenital heart disease
Genetic determination	autosomal dominant
Function/system disorder	ear
	kidney and urinary tract
	mental retardation
	cardiovascular
Type	disease

Remark(s)