|
1
|
(HPO:0001182)
|
Tapered finger |
Occasional [Orphanet]
|
|
|
|
93 / 7739
|
|
2
|
(HPO:0000992)
|
Cutaneous photosensitivity |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0008734)
|
Decreased testicular size |
Occasional [Orphanet]
|
|
|
|
105 / 7739
|
|
5
|
(HPO:0001596)
|
Alopecia |
Frequent [Orphanet]
|
|
|
|
162 / 7739
|
|
6
|
(HPO:0001595)
|
Abnormality of the hair |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
7
|
(HPO:0000411)
|
Protruding ear |
Occasional [Orphanet]
|
|
|
|
140 / 7739
|
|
8
|
(HPO:0000988)
|
Skin rash |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
9
|
(HPO:0000962)
|
Hyperkeratosis |
Very frequent [Orphanet]
|
|
|
|
216 / 7739
|
|
10
|
(HPO:0005595)
|
Generalized hyperkeratosis |
|
|
|
|
14 / 7739
|
|
11
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
|
12
|
(HPO:0007400)
|
Irregular hyperpigmentation |
Frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
13
|
(HPO:0000819)
|
Diabetes mellitus |
Frequent [Orphanet]
|
|
|
|
131 / 7739
|
|
14
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
15
|
(HPO:0008069)
|
Neoplasm of the skin |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
|
16
|
(HPO:0010783)
|
Erythema |
Very frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
17
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
|
18
|
(HPO:0000501)
|
Glaucoma |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
|
19
|
(HPO:0200037)
|
Skin vesicle |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
20
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
21
|
(HPO:0004279)
|
Short palm |
Occasional [Orphanet]
|
|
|
|
323 / 7739
|
|
22
|
(HPO:0001597)
|
Abnormality of the nail |
Occasional [Orphanet]
|
|
|
|
115 / 7739
|
|
23
|
(HPO:0000958)
|
Dry skin |
Frequent [Orphanet]
|
|
|
|
152 / 7739
|
|
24
|
(HPO:0005588)
|
Patchy palmoplantar keratoderma |
|
|
|
|
3 / 7739
|
|
25
|
(OMIM)
|
Localized symmetric fixed, yellow- or red-brown hyperkeratotic plaques (extensor surface of extremities, buttocks, and lateral trunk) |
|
|
|
|
3 / 7739
|
|
26
|
(OMIM)
|
Transient, migratory sharply outlined erythema (in some patients) |
|
|
|
|
3 / 7739
|
|
27
|
(HPO:0030350)
|
Erythematous papule |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
28
|
(HPO:0000481)
|
Abnormality of the cornea |
Occasional [Orphanet]
|
|
|
|
124 / 7739
|
|
29
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
30
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
31
|
(MedDRA:10025421)
|
Macule |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
32
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
33
|
(HPO:0011362)
|
Abnormal hair quantity |
Occasional [Orphanet]
|
|
|
|
92 / 7739
|