Harmonizome 3.0

Preauricular tag, isolated, autosomal dominant, 1

Nail dysplasia, isolated congenital

Anosmia, isolated congenital

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

Natural killer cell deficiency, familial isolated

cataract, congenital, with microphthalmia

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]

Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia

microphthalmia or anophthalmia and associated anomalies

microphthalmia, autosomal recessive

Microphthalmia, colobomatous, 1

Microphthalmia, colobomatous, 2