| ANOPHTHALMIA AND PULMONARY HYPOPLASIA |
C1832661 |
RARB
|
24075189 |
|
WNT7B
|
|
|
STRA6
|
21368206, 17503335, 17273977, 26893459, 21901792, 19839040 |
| Anophthalmos |
C0003119 |
BMP4
|
|
|
COL4A1
|
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|
COX7B
|
|
|
DAG1
|
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|
FANCB
|
|
|
FKTN
|
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|
GLI2
|
|
|
HCCS
|
|
|
KIF11
|
|
|
SIX6
|
|
|
OTX2
|
29178648 |
|
PAX6
|
7550230 |
|
RARB
|
|
|
RBP4
|
|
|
SOX2
|
21532573 |
|
TFAP2A
|
|
|
NAA10
|
|
|
LARGE1
|
|
|
SEMA3E
|
|
|
RXYLT1
|
|
|
POMT1
|
|
|
MAB21L2
|
|
|
B4GAT1
|
|
|
RPGRIP1L
|
|
|
SMCHD1
|
|
|
GRIP1
|
|
|
SH2B1
|
|
|
B9D1
|
|
|
POMT2
|
|
|
RAX
|
15789424 |
|
WDPCP
|
|
|
TMEM216
|
|
|
NDUFB11
|
|
|
BCOR
|
|
|
MKS1
|
|
|
CEP55
|
|
|
POMGNT1
|
|
|
CHD7
|
|
|
RPGRIP1
|
|
|
CC2D2A
|
|
|
SMOC1
|
|
|
STRA6
|
17273977 |
|
PORCN
|
|
|
FKRP
|
|
|
TMEM231
|
|
|
CSPP1
|
|
|
TCTN2
|
|
|
FRAS1
|
|
|
CEP290
|
|
|
B9D2
|
|
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POMK
|
|
|
TMEM107
|
|
|
POMGNT2
|
|
|
TMEM67
|
|
|
B3GALNT2
|
|
|
FREM1
|
|
|
HYLS1
|
|
|
FREM2
|
|
|
SOX2-OT
|
|
|
KIF7
|
|
|
CRPPA
|
|
| Microphthalmia, syndromic 1 |
C0796016 |
ARHGAP4
|
|
|
NAA10
|
24431331 |
|
BCOR
|
15004558 |
| MICROPHTHALMIA, SYNDROMIC 11 |
C3553077 |
VAX1
|
22095910 |
| MICROPHTHALMIA, SYNDROMIC 12 |
C3809803 |
RARB
|
27120018, 24075189, 24859618 |
| MICROPHTHALMIA, SYNDROMIC 13 |
C3806742 |
HMGB3
|
4998085, 24993872 |
| Microphthalmia, syndromic 2 |
C1846265 |
BCOR
|
15770227, 15004558, 22301464, 17517692, 19367324 |
| Microphthalmia, Syndromic 3 |
C1859773 |
SIX6
|
|
|
SOX2
|
24498598, 8741917, 24033328, 21326281, 24859618, 29371155, 12612584, 22171155, 16283891, 19921648, 24211324 |
|
SOX2-OT
|
22171155, 24211324, 24498598, 19921648 |
| Microphthalmia, Syndromic 5 |
C1864690 |
OTX2
|
24167467, 15846561, 9174161, 20396904, 19965921, 18781617, 19956411, 18628516, 22577225, 25293953 |
| MICROPHTHALMIA, SYNDROMIC 6 (disorder) |
C1864689 |
BMP4
|
2427285, 21340693, 18252212, 24289245 |
| MICROPHTHALMIA, SYNDROMIC 7 |
C0796070 |
ARHGAP6
|
|
|
COX7B
|
23122588 |
|
HCCS
|
17033964, 27604308 |
|
NDUFB11
|
25772934 |
| MICROPHTHALMIA, SYNDROMIC 8 |
C1832440 |
SNX3
|
12471201 |
| Syndromic microphthalmia type 5 |
178364 |
OTX2
|
|
