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GENATLAS PHENOTYPE

last update : 10/07/2006

Symbol	CHARGE2
Location	7q21.1
Name	CHARGE syndrome 2
Corresponding gene	SEMA3E
Main clinical features	coloboma (iris or choroid with or without microphthalmia), atresia or stenosis of choanae, ear anomalies, hypoplastic semi-circular canals, arhinencephaly, cranial nerves anomalies (facial palsy, dysphagia, sensorineural deafness) genital hypoplasia, congenital cardiovascular malformations, cleft lip, tracheooesophageal fistula, characteristic facial features, delayed motor, language, or global development
Genetic determination
Function/system disorder	cardiovascular
	eye
	ear
Type	MCA/MR

Remark(s)