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GENATLAS PHENOTYPE

last update : 25-05-2012

Symbol	COFS2
Location	19q13.32
Name	cerebro-oculo-facio-skeletal syndrome 2
Other name(s)	Pena-Shokeir syndrome type 2 COFS syndrome
Corresponding gene	ERCC2
Main clinical features	microcephaly, polymicrogyria, arthrogryposis, eye defects, facial anomalies, pulmonary hypoplasia, failure to thrive
Genetic determination	autosomal recessive
Function/system disorder	congenital malformation
	eye
Type	disease

Gene product

Name	ERCC2, excision repair cross-complementing group 2

Remark(s)