|
1
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|
|
2
|
(HPO:0000294)
|
Low anterior hairline |
|
|
|
|
52 / 7739
|
|
3
|
(HPO:0000322)
|
Short philtrum |
|
|
|
|
130 / 7739
|
|
4
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
5
|
(HPO:0000501)
|
Glaucoma |
|
|
|
|
180 / 7739
|
|
6
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
7
|
(HPO:0000540)
|
Hypermetropia |
|
|
|
|
99 / 7739
|
|
8
|
(HPO:0000960)
|
Sacral dimple |
|
|
|
|
29 / 7739
|
|
9
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
10
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
11
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
12
|
(HPO:0001566)
|
Widely-spaced maxillary central incisors |
|
|
|
|
15 / 7739
|
|
13
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
14
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
15
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
16
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
|
17
|
(HPO:0003186)
|
Inverted nipples |
|
|
|
|
15 / 7739
|
|
18
|
(HPO:0011398)
|
Central hypotonia |
|
|
|
|
12 / 7739
|
|
19
|
(OMIM)
|
Cataracts, rapid-onset |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Aphakic glaucoma |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0012471)
|
Thick vermilion border |
|
|
|
|
115 / 7739
|
|
22
|
(OMIM)
|
Prominent widely-spaced incisors |
|
|
|
|
1 / 7739
|
|
23
|
(MedDRA:10049470)
|
Bone density decreased |
|
|
|
|
3 / 7739
|
|
24
|
(OMIM)
|
Tethered spinal cord |
|
|
|
|
5 / 7739
|
|
25
|
(OMIM)
|
Compression deformities of the spine |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Peripheral hypertonia |
|
|
|
|
4 / 7739
|
|
27
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
28
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|