Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 14/09/07

Symbol	FOAR
Location	2q23.3-q31.1
Name	facio-oculo-acoustico-renal syndrome
Other name(s)	Donnai-Barrow syndrome (OMIM222448)
Corresponding gene	LRP2
Main clinical features	agenesis of the corpus callosum, congenital diaphragmatic hernia, facial dysmorphology, ocular anomalies, proteinuria sensorineural hearing loss and developmental delay facial features include prominent brow, short nose, and hypertelorism, and ocular anomalies include myopia, iris hypoplasia, and/or retinal detachment
Genetic determination	autosomal recessive
Function/system disorder	kidney and urinary tract
	ear
	eye
Type	disease

Remark(s)