GENETIC ENCYCLOPEDIA
ABOUT US    

   

disease: Microphthalmia syndromic 9

id5533
nameMicrophthalmia syndromic 9
descriptionMicrophthalmia, anophthalmia, and coloboma comprise the MAC spectrum of ocular malformations. Microphthalmia refers to a globe with a total axial length that is at least two standard deviations below the mean for age. Anophthalmia refers to complete absence of the globe in the presence of ocular adnexa (eyelids, conjunctiva, and lacrimal apparatus). Coloboma refers to the ocular malformations that result from failure of closure of the optic fissure. Chorioretinal coloboma refers to coloboma of the retina and choroid. Iris coloboma causes the iris to appear keyhole-shaped. Microphthalmia, anophthalmia, and coloboma may be unilateral or bilateral; when bilateral they may occur in any combination.
variant-disease NM_022369.4(STRA6):c.878C>T (p.Pro293Leu) AND Microphthalmia syndromic 9
NM_022369.4(STRA6):c.35_36dup (p.Gly13fs) AND Microphthalmia syndromic 9
NM_022369.4(STRA6):c.946G>A (p.Val316Met) AND Microphthalmia syndromic 9
NM_022369.4(STRA6):c.597+6C>T AND Microphthalmia syndromic 9
NM_058238.3(WNT7B):c.292C>T (p.Arg98Ter) AND Microphthalmia syndromic 9
... 23 more