1
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
Occasional [Orphanet]
|
|
|
|
105 / 7739
|
2
|
(HPO:0000964)
|
Eczema |
Occasional [Orphanet]
|
|
|
|
81 / 7739
|
3
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
4
|
(HPO:0001097)
|
Keratoconjunctivitis sicca |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
5
|
(HPO:0001760)
|
Abnormality of the foot |
Occasional [Orphanet]
|
|
|
|
96 / 7739
|
6
|
(HPO:0000929)
|
Abnormality of the skull |
Occasional [Orphanet]
|
|
|
|
53 / 7739
|
7
|
(HPO:0000613)
|
Photophobia |
Occasional [Orphanet]
|
|
|
|
158 / 7739
|
8
|
(HPO:0006482)
|
Abnormality of dental morphology |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
9
|
(HPO:0003777)
|
Pili torti |
Occasional [Orphanet]
|
|
|
|
24 / 7739
|
10
|
(HPO:0002213)
|
Fine hair |
Frequent [Orphanet]
|
|
|
|
77 / 7739
|
11
|
(HPO:0000232)
|
Everted lower lip vermilion |
Occasional [Orphanet]
|
|
|
|
90 / 7739
|
12
|
(HPO:0006709)
|
Aplasia/Hypoplasia of the nipples |
Frequent [Orphanet]
|
|
|
|
28 / 7739
|
13
|
(HPO:0001161)
|
Hand polydactyly |
Occasional [Orphanet]
|
|
|
|
71 / 7739
|
14
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
15
|
(HPO:0100776)
|
Recurrent pharyngitis |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
16
|
(HPO:0200042)
|
Skin ulcer |
Occasional [Orphanet]
|
|
|
|
138 / 7739
|
17
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
18
|
(HPO:0001820)
|
Leukonychia |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
19
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
20
|
(HPO:0000962)
|
Hyperkeratosis |
Occasional [Orphanet]
|
|
|
|
216 / 7739
|
21
|
(HPO:0100533)
|
Inflammatory abnormality of the eye |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
22
|
(HPO:0000271)
|
Abnormality of the face |
Occasional [Orphanet]
|
|
|
|
108 / 7739
|
23
|
(HPO:0000478)
|
Abnormality of the eye |
Frequent [Orphanet]
|
|
|
|
126 / 7739
|
24
|
(HPO:0000217)
|
Xerostomia |
Occasional [Orphanet]
|
|
|
|
35 / 7739
|
25
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Occasional [Orphanet]
|
|
|
|
117 / 7739
|
26
|
(HPO:0000357)
|
Abnormal location of ears |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
27
|
(HPO:0000445)
|
Wide nose |
Occasional [Orphanet]
|
|
|
|
190 / 7739
|
28
|
(HPO:0000598)
|
Abnormality of the ear |
Frequent [Orphanet]
|
|
|
|
98 / 7739
|
29
|
(HPO:0000958)
|
Dry skin |
Very frequent [Orphanet]
|
|
|
|
152 / 7739
|
30
|
(HPO:0002047)
|
Malignant hyperthermia |
Occasional [Orphanet]
|
|
|
|
20 / 7739
|
31
|
(HPO:0000202)
|
Oral cleft |
Frequent [Orphanet]
|
|
|
|
120 / 7739
|
32
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
33
|
(HPO:0000246)
|
Sinusitis |
Occasional [Orphanet]
|
|
|
|
73 / 7739
|
34
|
(HPO:0006101)
|
Finger syndactyly |
Occasional [Orphanet]
|
|
|
|
198 / 7739
|
35
|
(HPO:0001155)
|
Abnormality of the hand |
Occasional [Orphanet]
|
|
|
|
54 / 7739
|
36
|
(HPO:0002217)
|
Slow-growing hair |
Very frequent [Orphanet]
|
|
|
|
22 / 7739
|
37
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Occasional [Orphanet]
|
|
|
|
148 / 7739
|
38
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
39
|
(HPO:0000572)
|
Visual loss |
Occasional [Orphanet]
|
|
|
|
272 / 7739
|
40
|
(HPO:0002015)
|
Dysphagia |
Occasional [Orphanet]
|
|
|
|
301 / 7739
|
41
|
(HPO:0008069)
|
Neoplasm of the skin |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
42
|
(HPO:0002007)
|
Frontal bossing |
Frequent [Orphanet]
|
|
|
|
366 / 7739
|
43
|
(HPO:0000405)
|
Conductive hearing impairment |
Occasional [Orphanet]
|
|
|
|
164 / 7739
|
44
|
(HPO:0000956)
|
Acanthosis nigricans |
Occasional [Orphanet]
|
|
|
|
54 / 7739
|
45
|
(HPO:0000389)
|
Chronic otitis media |
Occasional [Orphanet]
|
|
|
|
64 / 7739
|
46
|
(HPO:0009380)
|
Aplasia of the fingers |
Occasional [Orphanet]
|
|
|
|
51 / 7739
|
47
|
(HPO:0001805)
|
Thick nail |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|