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GENATLAS PHENOTYPE

last update : 02-05-2017

Symbol	MCOPS1
Location	Xq28
HGNC id	6755
Name	microphthalmia and associated anomalies 1
Other name(s)	Lenz microphthalmia syndrome, Lenz dysplasia, syndromic microphthalmia-anophthalmia
Corresponding gene	NAA10
Other symbol(s)	MAA, MAA1
Main clinical features	mental retardation, hypospadias and bilateral cryptorchidism, renal dysgenesis and hydroureters, unilateral microphthalmos, agenesis of upper lateral incisors and irregular lower incisors, long cylindrical thorax with sloping shoulders and exaggerated lumbar lordosis, and cutaneous clubbing of the right third and fourth toes
Genetic determination	sex linked
Function/system disorder	eye
Type	MCA/MR

Remark(s)