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GENATLAS PHENOTYPE

last update : 10-01-2019

Symbol	ORDMR
Location	11q13.1
Name	overgrowth, renal dysplasia predisposing to Wilms tumor, mental retardation
Other name(s)	Thauvin-Robinet-Faivre syndrome
Corresponding gene	FIBP
Other symbol(s)	TROFAS
Main clinical features	generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties, retinal coloboma; more variable features may include congenital heart defects, kidney abnormalities, and skeletal defects
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	kidney and urinary tract
Type	MCA/MR

Remark(s)