|
1
|
(HPO:0000501)
|
Glaucoma |
Very frequent [Orphanet]
|
|
|
|
180 / 7739
|
|
2
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
|
3
|
(HPO:0000545)
|
Myopia |
Very frequent [Orphanet]
|
|
|
|
286 / 7739
|
|
4
|
(HPO:0001072)
|
Thickened skin |
Frequent [Orphanet]
|
|
|
|
87 / 7739
|
|
5
|
(HPO:0001083)
|
Ectopia lentis |
Frequent [Orphanet]
|
|
|
|
45 / 7739
|
|
6
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [Orphanet]
|
|
|
|
316 / 7739
|
|
7
|
(HPO:0001633)
|
Abnormality of the mitral valve |
Occasional [Orphanet]
|
|
|
|
69 / 7739
|
|
8
|
(HPO:0001641)
|
Abnormality of the pulmonary valve |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
|
9
|
(HPO:0001646)
|
Abnormality of the aortic valve |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
|
10
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
11
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
12
|
(HPO:0000572)
|
Visual loss |
Occasional [Orphanet]
|
|
|
|
272 / 7739
|
|
13
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
14
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Frequent [Orphanet]
|
|
|
|
355 / 7739
|
|
15
|
(HPO:0006494)
|
Aplasia/Hypoplasia involving bones of the feet |
Very frequent [Orphanet]
|
|
|
|
69 / 7739
|
|
16
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
17
|
(HPO:0000517)
|
Abnormality of the lens |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
|
18
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
19
|
(HPO:0000189)
|
Narrow palate |
|
|
|
|
45 / 7739
|
|
20
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
|
21
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
|
22
|
(HPO:0000586)
|
Shallow orbits |
|
|
|
|
23 / 7739
|
|
23
|
(HPO:0000594)
|
Shallow anterior chamber |
|
|
|
|
8 / 7739
|
|
24
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
25
|
(HPO:0000692)
|
Misalignment of teeth |
|
|
|
|
18 / 7739
|
|
26
|
(HPO:0000885)
|
Broad ribs |
|
|
|
|
21 / 7739
|
|
27
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
28
|
(HPO:0001169)
|
Broad palm |
|
|
|
|
43 / 7739
|
|
29
|
(HPO:0001230)
|
Broad metacarpals |
|
|
|
|
17 / 7739
|
|
30
|
(HPO:0001256)
|
Intellectual disability, mild |
11% [HPO:skoehler]
|
|
|
|
141 / 7739
|
|
31
|
(HPO:0001642)
|
Pulmonic stenosis |
|
|
|
|
89 / 7739
|
|
32
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
|
33
|
(HPO:0001650)
|
Aortic valve stenosis |
|
|
|
|
49 / 7739
|
|
34
|
(HPO:0001653)
|
Mitral regurgitation |
|
|
|
|
64 / 7739
|
|
35
|
(HPO:0001783)
|
Broad metatarsal |
|
|
|
|
9 / 7739
|
|
36
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
37
|
(HPO:0002682)
|
Broad skull |
|
|
|
|
5 / 7739
|
|
38
|
(HPO:0002753)
|
Thin bony cortex |
|
|
|
|
16 / 7739
|
|
39
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
|
40
|
(HPO:0003416)
|
Spinal canal stenosis |
|
|
|
|
28 / 7739
|
|
41
|
(HPO:0003508)
|
Proportionate short stature |
|
|
|
|
12 / 7739
|
|
42
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
43
|
(HPO:0006482)
|
Abnormality of dental morphology |
|
|
|
|
81 / 7739
|
|
44
|
(HPO:0009768)
|
Broad phalanges of the hand |
|
|
|
|
3 / 7739
|
|
45
|
(HPO:0011003)
|
Severe Myopia |
|
|
|
|
31 / 7739
|