|
1
|
(HPO:0002205)
|
Recurrent respiratory infections |
Frequent [Orphanet]
|
|
|
|
254 / 7739
|
|
2
|
(HPO:0002575)
|
Tracheoesophageal fistula |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
3
|
(HPO:0000951)
|
Abnormality of the skin |
Very frequent [Orphanet]
|
|
|
|
147 / 7739
|
|
4
|
(HPO:0200042)
|
Skin ulcer |
Very frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
5
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [Orphanet]
|
|
|
|
410 / 7739
|
|
6
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
|
7
|
(HPO:0000682)
|
Abnormality of dental enamel |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
8
|
(HPO:0008388)
|
Abnormality of the toenails |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
9
|
(HPO:0001608)
|
Abnormality of the voice |
Very frequent [Orphanet]
|
|
|
|
126 / 7739
|
|
10
|
(HPO:0001231)
|
Abnormality of the fingernails |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
11
|
(HPO:0000478)
|
Abnormality of the eye |
|
|
|
|
126 / 7739
|
|
12
|
(HPO:0000705)
|
Amelogenesis imperfecta |
|
|
|
|
25 / 7739
|
|
13
|
(HPO:0001612)
|
Weak cry |
|
|
|
|
17 / 7739
|
|
14
|
(HPO:0001615)
|
Hoarse cry |
|
|
|
|
5 / 7739
|
|
15
|
(HPO:0008390)
|
Recurrent loss of toenails and fingernails |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0100669)
|
Abnormal pigmentation of the oral mucosa |
Very frequent [Orphanet]
|
|
|
|
7 / 7739
|
|
17
|
(OMIM)
|
Conjunctival scarring |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Dermal granuloma |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Vocal cord granuloma |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0001804)
|
Hypoplastic fingernail |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
21
|
(HPO:0001522)
|
Death in infancy |
Very frequent [Orphanet]
|
|
|
|
275 / 7739
|
|
22
|
(HPO:0000481)
|
Abnormality of the cornea |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
23
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
24
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|