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GENATLAS PHENOTYPE

last update : 17-06-2014

Symbol	CLBMS3
Location	4q31.3
Name	colobomatous microphthalmia syndromic3
Corresponding gene	MAD21L2
Main clinical features	colobomatous microphthalmia, resulting from failure of optic fissure closure during embryogenesis, or bilateral anophthalmia with macrocephaly, moderate intellectual disability, and generalized skeletal dysplasia
Genetic determination	autosomal dominant
Function/system disorder	eye
	osteo-articular
	mental retardation
Type	disease

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