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GENATLAS PHENOTYPE

last update : 04-02-2011

Symbol	OPACS2
Location	14q24.1
Name	ophthalmo-acromelic syndrome 2
Other name(s)	microphthalmia with limb anomalies Waardenburg's recessive anophthalmia syndrome 2
Corresponding gene	SMOC1
Other symbol(s)	MLA
Main clinical features	anophthalmia or microphthalmia and hand and/or foot malformation global delay in developmental milestones, facial dysmorphy, anophthalmia or microphthalmia skeletal abnormalities included malar flattening, a high palate, bilateral proximal placement of the thumb, syndactyly, polydactyly, synostosis, and/or oligodactyly on brain MRI, complete absence of the optic nerves, chiasma, and optic tracts and no other malformations
Genetic determination	autosomal recessive
Function/system disorder	osteo-articular
	eye
Type	malformation

Remark(s)