|
1
|
(HPO:0000217)
|
Xerostomia |
Frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
2
|
(HPO:0000246)
|
Sinusitis |
Frequent [Orphanet]
|
|
|
|
73 / 7739
|
|
3
|
(HPO:0000463)
|
Anteverted nares |
Frequent [Orphanet]
|
|
|
|
305 / 7739
|
|
4
|
(HPO:0000958)
|
Dry skin |
Very frequent [Orphanet]
|
|
|
|
152 / 7739
|
|
5
|
(HPO:0000962)
|
Hyperkeratosis |
Frequent [Orphanet]
|
|
|
|
216 / 7739
|
|
6
|
(HPO:0000963)
|
Thin skin |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
7
|
(HPO:0000964)
|
Eczema |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
8
|
(HPO:0001097)
|
Keratoconjunctivitis sicca |
Very frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
9
|
(HPO:0001597)
|
Abnormality of the nail |
Occasional [Orphanet]
|
|
|
|
115 / 7739
|
|
10
|
(HPO:0001999)
|
Abnormal facial shape |
Very frequent [Orphanet]
|
|
|
|
169 / 7739
|
|
11
|
(HPO:0002007)
|
Frontal bossing |
Frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
12
|
(HPO:0002217)
|
Slow-growing hair |
Frequent [Orphanet]
|
|
|
|
22 / 7739
|
|
13
|
(HPO:0005280)
|
Depressed nasal bridge |
Frequent [Orphanet]
|
|
|
|
381 / 7739
|
|
14
|
(HPO:0005599)
|
Hypopigmentation of hair |
Frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
15
|
(HPO:0006482)
|
Abnormality of dental morphology |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
16
|
(HPO:0007400)
|
Irregular hyperpigmentation |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
17
|
(HPO:0009804)
|
Reduced number of teeth |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
18
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Very frequent [Orphanet]
|
|
|
|
148 / 7739
|
|
19
|
(HPO:0100783)
|
Breast aplasia |
Occasional [Orphanet]
|
|
|
|
19 / 7739
|
|
20
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
21
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
|
22
|
(HPO:0004370)
|
Abnormality of temperature regulation |
Frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
23
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
Very frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
24
|
(HPO:0002299)
|
Brittle hair |
Frequent [Orphanet]
|
|
|
|
52 / 7739
|
|
25
|
(HPO:0001006)
|
Hypotrichosis |
Occasional [Orphanet]
|
|
|
|
219 / 7739
|
|
26
|
(HPO:0100533)
|
Inflammatory abnormality of the eye |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
27
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
28
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
|
29
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
30
|
([DEL]MedDRA:10011224)
|
Cough |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
31
|
(HPO:0012471)
|
Thick vermilion border |
Very frequent [Orphanet]
|
|
|
|
115 / 7739
|
|
32
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|