Results for "Microphthalmia, Isolated, with Coloboma 1": 14 genes

Name

MNDEC Gene

Microtia with nasolacrimal duct imperforation and eye coloboma

CCCSX Gene

Cerebral-cerebellar-coloboma syndrome, X-linked

PAURT1 Gene

Preauricular tag, isolated, autosomal dominant, 1

NDIC Gene

Nail dysplasia, isolated congenital

ANIC Gene

Anosmia, isolated congenital

LVNC2 Gene

noncompaction of left ventricular myocardium, familial isolated, autosomal dominant 2

NKCD Gene

Natural killer cell deficiency, familial isolated

MCOPCT1 Gene

cataract, congenital, with microphthalmia

MITF Gene

microphthalmia-associated transcription factor

The protein encoded by this gene is a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. The encoded protein regulates melanocyte development and is responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. [provided by RefSeq, Aug 2017]

CPBHM Gene

Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia

MAA Gene

microphthalmia or anophthalmia and associated anomalies

MCOP1 Gene

microphthalmia, autosomal recessive

MCOPCB1 Gene

Microphthalmia, colobomatous, 1

MCOPCB2 Gene

Microphthalmia, colobomatous, 2