|
1
|
(HPO:0003298)
|
Spina bifida occulta |
Occasional [Orphanet]
|
|
|
|
67 / 7739
|
|
2
|
(HPO:0010044)
|
Short 4th metacarpal |
|
|
|
|
14 / 7739
|
|
3
|
(HPO:0000272)
|
Malar flattening |
Frequent [Orphanet]
|
|
|
|
277 / 7739
|
|
4
|
(HPO:0000294)
|
Low anterior hairline |
Very frequent [Orphanet]
|
|
|
|
52 / 7739
|
|
5
|
(HPO:0002705)
|
High, narrow palate |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
|
6
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
|
7
|
(HPO:0005338)
|
Sparse lateral eyebrow |
Very frequent [Orphanet]
|
|
|
|
21 / 7739
|
|
8
|
(HPO:0200055)
|
Small hand |
Very frequent [Orphanet]
|
|
|
|
71 / 7739
|
|
9
|
(HPO:0000470)
|
Short neck |
Frequent [Orphanet]
|
|
|
|
345 / 7739
|
|
10
|
(HPO:0003777)
|
Pili torti |
Occasional [Orphanet]
|
|
|
|
24 / 7739
|
|
11
|
(HPO:0011800)
|
Midface retrusion |
Very frequent [Orphanet]
|
|
|
|
221 / 7739
|
|
12
|
(HPO:0011069)
|
Increased number of teeth |
Frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
13
|
(HPO:0000677)
|
Oligodontia |
|
|
|
|
41 / 7739
|
|
14
|
(HPO:0000337)
|
Broad forehead |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
15
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
16
|
(HPO:0010554)
|
Cutaneous finger syndactyly |
|
|
|
|
39 / 7739
|
|
17
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
18
|
(HPO:0001006)
|
Hypotrichosis |
Frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
19
|
(HPO:0002750)
|
Delayed skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
20
|
(HPO:0000204)
|
Cleft upper lip |
Occasional [Orphanet]
|
|
|
|
193 / 7739
|
|
21
|
(HPO:0000288)
|
Abnormality of the philtrum |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
22
|
(HPO:0001057)
|
Aplasia cutis congenita |
|
|
|
|
7 / 7739
|
|
23
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
24
|
(HPO:0003311)
|
Hypoplasia of the odontoid process |
|
|
|
|
34 / 7739
|
|
25
|
(HPO:0003468)
|
Abnormality of the vertebrae |
|
|
|
|
77 / 7739
|
|
26
|
(HPO:0004614)
|
Spina bifida occulta at S1 |
|
|
|
|
2 / 7739
|
|
27
|
(HPO:0005105)
|
Abnormal nasal morphology |
Frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
28
|
(HPO:0009804)
|
Reduced number of teeth |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
29
|
(HPO:0100333)
|
Unilateral cleft lip |
|
|
|
|
2 / 7739
|
|
30
|
(HPO:0002224)
|
Woolly hair |
|
|
|
|
26 / 7739
|
|
31
|
(OMIM)
|
Cutaneous syndactyly of digits 2-5 |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
|
33
|
(OMIM)
|
Large atlas |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Mild scoliosis |
|
|
|
|
7 / 7739
|
|
35
|
(OMIM)
|
Aplasia cutis verticis |
|
|
|
|
2 / 7739
|
|
36
|
(HPO:0000492)
|
Abnormality of the eyelid |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
|
37
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Occasional [Orphanet]
|
|
|
|
81 / 7739
|
|
38
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
39
|
(HPO:0200102)
|
Sparse or absent eyelashes |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
40
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
41
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
42
|
(HPO:0006101)
|
Finger syndactyly |
Very frequent [Orphanet]
|
|
|
|
198 / 7739
|