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. 2017 Jan 18;25(4). doi: 10.1038/ejhg.2016.201

Table 1. Overview of disease associated with non-syndromic (isolated and complex) microphthalmia.

Name of the disease OMIM# of the disease Cytogenetic location Associated gene(s) OMIM# of associated gene(s)
Microphthalmia, isolated 1; MCOP1 251600 14q32
Microphthalmia, isolated 2; MCOP2 610093 14q24.3 VSX2 142993
Microphthalmia, isolated 3; MCOP3 611038 18q21.32 RAX 601881
Microphthalmia, isolated 4; MCOP4 613094 8q22.1 GDF6 601147
Microphthalmia, isolated 5; MCOP5 611040 11q23.3 MFRP 606227
Microphthalmia, isolated 6; MCOP6 613517 2q37.1 PRSS56 613858
Microphthalmia, isolated 7; MCOP7 613704 12p13.31 GDF3 606522
Microphthalmia, isolated 8; MCOP8 615113 15q26.3 ALDH1A3 600463
Microphthalmia, isolated with coloboma 1; MCOPCB1 300345 Chr.X
Microphthalmia, isolated with coloboma 2; MCOPCB2 605738 15q12-q15
Microphthalmia, isolated with coloboma 3; MCOPCB3 610092 14q24.3 VSX2 142993
Microphthalmia, isolated with coloboma 4; MCOPCB4 251505
Microphthalmia, isolated with coloboma 5; MCOPCB5 611638 7q36.3 SHH 600725
Microphthalmia, isolated with coloboma 6, digenic; MCOPCB6 613703 8q22.1 GDF6 601147
Microphthalmia, isolated with coloboma 6; MCOPCB6 613703 12p13.31 GDF3 606522
Microphthalmia, isolated with coloboma 7; MCOPCB7 614497 2q35 ABCB6 605452
Microphthalmia, isolated with coloboma 8; MCOPCB8 601186 15q24.1 STRA6 610745
Microphthalmia, isolated with coloboma 9; MCOPCB9 615145 4q34.3-35.1 TENM3 610083
Microphthalmia, isolated with coloboma 10; MCOPCB10 616428 10q23.33 RBP4 180250
Microphthalmia, isolated with corectopia; MCOPCR 156900
Microphthalmia, isolated with cataract 1; MCOPCT1 156850 16p13.3
Nanophthalmos 1; NN01 600165 11p
Nanophthalmos 2; NN02 609549 11q23.3 MFRP 606227
Nanophthalmos 3; NN03 611897 2q11-q14
Nanophthalmos 4; NN04 615972 17q11.2 TMEM98 615949