Results for "microphthalmia, syndromic 3": 24 genes

Name

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

MRT28 Gene

mental retardation, non-syndromic, autosomal recessive, 28

MRT24 Gene

mental retardation, non-syndromic, autosomal recessive, 24

MRT23 Gene

mental retardation, non-syndromic, autosomal recessive, 23

MRT10 Gene

mental retardation, non-syndromic, autosomal recessive, 10

MRT17 Gene

mental retardation, non-syndromic, autosomal recessive, 17

MRT11 Gene

mental retardation, non-syndromic, autosomal recessive, 11

MRT19 Gene

mental retardation, non-syndromic, autosomal recessive, 19

MRT8 Gene

mental retardation, non-syndromic, autosomal recessive, 8

MRT9 Gene

mental retardation, non-syndromic, autosomal recessive, 9

MRT25 Gene

mental retardation, non-syndromic, autosomal recessive, 25

MRT4 Gene

mental retardation, non-syndromic, autosomal recessive, 4

MRXS17 Gene

Mental retardation, X-linked, syndromic 17

MRXS12 Gene

Mental retardation, X-linked, syndromic 12

MRXS11 Gene

mental retardation, X-linked, syndromic 11

MRT27 Gene

mental retardation, non-syndromic, autosomal recessive, 27

MRXSCS Gene

Mental retardation, X-linked, syndromic, Chudley-Schwartz type

MRXS7 Gene

mental retardation, X-linked, syndromic 7