|
1
|
(HPO:0000160)
|
Narrow mouth |
Frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
2
|
(HPO:0000670)
|
Carious teeth |
Frequent [Orphanet]
|
|
|
|
145 / 7739
|
|
3
|
(HPO:0000987)
|
Atypical scarring of skin |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
4
|
(HPO:0001231)
|
Abnormality of the fingernails |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
5
|
(HPO:0001596)
|
Alopecia |
Occasional [Orphanet]
|
|
|
|
162 / 7739
|
|
6
|
(HPO:0001770)
|
Toe syndactyly |
Occasional [Orphanet]
|
|
|
|
149 / 7739
|
|
7
|
(HPO:0001903)
|
Anemia |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
|
8
|
(HPO:0002019)
|
Constipation |
Frequent [Orphanet]
|
|
|
|
194 / 7739
|
|
9
|
(HPO:0002575)
|
Tracheoesophageal fistula |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
10
|
(HPO:0004349)
|
Reduced bone mineral density |
Occasional [Orphanet]
|
|
|
|
165 / 7739
|
|
11
|
(HPO:0006101)
|
Finger syndactyly |
Occasional [Orphanet]
|
|
|
|
198 / 7739
|
|
12
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Occasional [Orphanet]
|
|
|
|
81 / 7739
|
|
13
|
(HPO:0200037)
|
Skin vesicle |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
14
|
(HPO:0008069)
|
Neoplasm of the skin |
Frequent [Orphanet]
|
|
|
|
84 / 7739
|
|
15
|
(HPO:0008388)
|
Abnormality of the toenails |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
16
|
(HPO:0010296)
|
Ankyloglossia |
Frequent [Orphanet]
|
|
|
|
11 / 7739
|
|
17
|
(HPO:0004378)
|
Abnormality of the anus |
Frequent [Orphanet]
|
|
|
|
34 / 7739
|
|
18
|
(HPO:0000572)
|
Visual loss |
Occasional [Orphanet]
|
|
|
|
272 / 7739
|
|
19
|
(HPO:0001595)
|
Abnormality of the hair |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
|
20
|
(HPO:0002015)
|
Dysphagia |
Frequent [Orphanet]
|
|
|
|
301 / 7739
|
|
21
|
(HPO:0030350)
|
Erythematous papule |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
22
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
|
23
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Occasional [Orphanet]
|
|
|
|
96 / 7739
|
|
24
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Occasional [Orphanet]
|
|
|
|
156 / 7739
|
|
25
|
(HPO:0000481)
|
Abnormality of the cornea |
Occasional [Orphanet]
|
|
|
|
124 / 7739
|
|
26
|
(HPO:0000315)
|
Abnormality of the orbital region |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
|
27
|
(HPO:0011830)
|
Abnormality of oral mucosa |
Frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
28
|
(HPO:0000492)
|
Abnormality of the eyelid |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|