|
1
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
|
2
|
(HPO:0000508)
|
Ptosis |
Very frequent [Orphanet]
|
|
|
|
459 / 7739
|
|
3
|
(HPO:0000767)
|
Pectus excavatum |
Frequent [Orphanet]
|
|
|
|
244 / 7739
|
|
4
|
(HPO:0000820)
|
Abnormality of the thyroid gland |
Frequent [Orphanet]
|
|
|
|
19 / 7739
|
|
5
|
(HPO:0000957)
|
Cafe-au-lait spot |
Frequent [Orphanet]
|
|
|
|
84 / 7739
|
|
6
|
(HPO:0000995)
|
Melanocytic nevus |
Frequent [Orphanet]
|
|
|
|
63 / 7739
|
|
7
|
(HPO:0001555)
|
Asymmetry of the thorax |
Frequent [Orphanet]
|
|
|
|
15 / 7739
|
|
8
|
(HPO:0001608)
|
Abnormality of the voice |
Frequent [Orphanet]
|
|
|
|
126 / 7739
|
|
9
|
(HPO:0001633)
|
Abnormality of the mitral valve |
Occasional [Orphanet]
|
|
|
|
69 / 7739
|
|
10
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
11
|
(HPO:0002808)
|
Kyphosis |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
12
|
(HPO:0002970)
|
Genu varum |
Very frequent [Orphanet]
|
|
|
|
60 / 7739
|
|
13
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Frequent [Orphanet]
|
|
|
|
281 / 7739
|
|
14
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
15
|
(HPO:0006101)
|
Finger syndactyly |
Very frequent [Orphanet]
|
|
|
|
198 / 7739
|
|
16
|
(HPO:0001010)
|
Hypopigmentation of the skin |
Occasional [Orphanet]
|
|
|
|
46 / 7739
|
|
17
|
(HPO:0010290)
|
Short hard palate |
Frequent [Orphanet]
|
|
|
|
5 / 7739
|
|
18
|
(HPO:0004326)
|
Cachexia |
Very frequent [Orphanet]
|
|
|
|
71 / 7739
|
|
19
|
(HPO:0000510)
|
Rod-cone dystrophy |
Frequent [Orphanet]
|
|
|
|
266 / 7739
|
|
20
|
(HPO:0000366)
|
Abnormality of the nose |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|