1
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
2
|
(HPO:0004370)
|
Abnormality of temperature regulation |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
3
|
(HPO:0000405)
|
Conductive hearing impairment |
Occasional [Orphanet]
|
|
|
|
164 / 7739
|
4
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
5
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
|
|
190 / 7739
|
6
|
(HPO:0000411)
|
Protruding ear |
Occasional [Orphanet]
|
|
|
|
140 / 7739
|
7
|
(HPO:0001805)
|
Thick nail |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
8
|
(HPO:0000982)
|
Palmoplantar keratoderma |
|
|
|
|
40 / 7739
|
9
|
(HPO:0000561)
|
Absent eyelashes |
|
|
|
|
18 / 7739
|
10
|
(HPO:0000653)
|
Sparse eyelashes |
|
|
|
|
58 / 7739
|
11
|
(HPO:0006482)
|
Abnormality of dental morphology |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
12
|
(HPO:0001608)
|
Abnormality of the voice |
Occasional [Orphanet]
|
|
|
|
126 / 7739
|
13
|
(HPO:0002208)
|
Coarse hair |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
14
|
(HPO:0000684)
|
Delayed eruption of teeth |
Occasional [Orphanet]
|
|
|
|
117 / 7739
|
15
|
(HPO:0009755)
|
Ankyloblepharon |
|
|
|
|
10 / 7739
|
16
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Occasional [Orphanet]
|
|
|
|
288 / 7739
|
17
|
(HPO:0000668)
|
Hypodontia |
|
|
|
|
81 / 7739
|
18
|
(HPO:0002558)
|
Supernumerary nipple |
Occasional [Orphanet]
|
|
|
|
40 / 7739
|
19
|
(HPO:0000682)
|
Abnormality of dental enamel |
Frequent [Orphanet]
|
|
|
|
102 / 7739
|
20
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [Orphanet]
|
|
|
|
316 / 7739
|
21
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
22
|
(HPO:0000953)
|
Hyperpigmentation of the skin |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
23
|
(HPO:0000632)
|
Lacrimation abnormality |
Occasional [Orphanet]
|
|
|
|
42 / 7739
|
24
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
25
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
26
|
(HPO:0000204)
|
Cleft upper lip |
Very frequent [Orphanet]
|
|
|
|
193 / 7739
|
27
|
(HPO:0000300)
|
Oval face |
|
|
|
|
5 / 7739
|
28
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
29
|
(HPO:0000413)
|
Atresia of the external auditory canal |
|
|
|
|
32 / 7739
|
30
|
(HPO:0000498)
|
Blepharitis |
|
|
|
|
27 / 7739
|
31
|
(HPO:0000509)
|
Conjunctivitis |
|
|
|
|
47 / 7739
|
32
|
(HPO:0000564)
|
Lacrimal duct atresia |
|
|
|
|
4 / 7739
|
33
|
(HPO:0000687)
|
Widely spaced teeth |
|
|
|
|
40 / 7739
|
34
|
(HPO:0000698)
|
Conical tooth |
|
|
|
|
14 / 7739
|
35
|
(HPO:0000707)
|
Abnormality of the nervous system |
|
|
|
|
61 / 7739
|
36
|
(HPO:0000970)
|
Anhidrosis |
|
|
|
|
24 / 7739
|
37
|
(HPO:0001592)
|
Selective tooth agenesis |
|
|
|
|
16 / 7739
|
38
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
39
|
(HPO:0001795)
|
Hyperconvex nail |
|
|
|
|
13 / 7739
|
40
|
(HPO:0001798)
|
Anonychia |
|
|
|
|
28 / 7739
|
41
|
(HPO:0002231)
|
Sparse body hair |
|
|
|
|
9 / 7739
|
42
|
(HPO:0002232)
|
Patchy alopecia |
|
|
|
|
4 / 7739
|
43
|
(HPO:0004691)
|
2-3 toe syndactyly |
|
|
|
|
50 / 7739
|
44
|
(HPO:0006101)
|
Finger syndactyly |
Occasional [Orphanet]
|
|
|
|
198 / 7739
|
45
|
(HPO:0008404)
|
Nail dystrophy |
|
|
|
|
89 / 7739
|
46
|
(HPO:0009804)
|
Reduced number of teeth |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
47
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
48
|
(OMIM)
|
Scalp erosions |
|
|
|
|
1 / 7739
|
49
|
(OMIM)
|
Cup-shaped auricles |
|
|
|
|
1 / 7739
|
50
|
(HPO:0200102)
|
Sparse or absent eyelashes |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|
51
|
(MedDRA:10046904)
|
Vaginal dryness |
|
|
|
|
1 / 7739
|
52
|
(OMIM)
|
Red, cracking, peeling skin at birth |
|
|
|
|
1 / 7739
|
53
|
(HPO:0000962)
|
Hyperkeratosis |
Frequent [Orphanet]
|
|
|
|
216 / 7739
|
54
|
(OMIM)
|
Hyperpigmentation |
|
|
|
|
24 / 7739
|
55
|
(OMIM)
|
Partial anhidrosis |
|
|
|
|
1 / 7739
|
56
|
(OMIM)
|
Wiry, sparse hair |
|
|
|
|
1 / 7739
|
57
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
58
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
59
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
60
|
(HPO:0000315)
|
Abnormality of the orbital region |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
61
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
62
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|