1
|
(HPO:0008714)
|
Ureterovesical stenosis |
Occasional [Orphanet]
|
|
|
|
10 / 7739
|
2
|
(HPO:0000046)
|
Scrotal hypoplasia |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
3
|
(HPO:0002553)
|
Highly arched eyebrow |
Frequent [Orphanet]
|
|
|
|
92 / 7739
|
4
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
5
|
(HPO:0004370)
|
Abnormality of temperature regulation |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
6
|
(HPO:0001596)
|
Alopecia |
Frequent [Orphanet]
|
|
|
|
162 / 7739
|
7
|
(HPO:0000431)
|
Wide nasal bridge |
Frequent [Orphanet]
|
|
|
|
290 / 7739
|
8
|
(HPO:0000272)
|
Malar flattening |
Frequent [Orphanet]
|
|
|
|
277 / 7739
|
9
|
(HPO:0000411)
|
Protruding ear |
Frequent [Orphanet]
|
|
|
|
140 / 7739
|
10
|
(HPO:0001805)
|
Thick nail |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
11
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
12
|
(HPO:0002353)
|
EEG abnormality |
Occasional [Orphanet]
|
|
|
|
188 / 7739
|
13
|
(HPO:0006482)
|
Abnormality of dental morphology |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
14
|
(HPO:0000962)
|
Hyperkeratosis |
Occasional [Orphanet]
|
|
|
|
216 / 7739
|
15
|
(HPO:0005338)
|
Sparse lateral eyebrow |
Frequent [Orphanet]
|
|
|
|
21 / 7739
|
16
|
(HPO:0000670)
|
Carious teeth |
Frequent [Orphanet]
|
|
|
|
145 / 7739
|
17
|
(HPO:0003777)
|
Pili torti |
Frequent [Orphanet]
|
|
|
|
24 / 7739
|
18
|
(HPO:0002205)
|
Recurrent respiratory infections |
Frequent [Orphanet]
|
|
|
|
254 / 7739
|
19
|
(HPO:0000664)
|
Synophrys |
Frequent [Orphanet]
|
|
|
|
112 / 7739
|
20
|
(HPO:0011800)
|
Midface retrusion |
Frequent [Orphanet]
|
|
|
|
221 / 7739
|
21
|
(HPO:0001770)
|
Toe syndactyly |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
22
|
(HPO:0010621)
|
Cutaneous syndactyly of toes |
|
|
|
|
36 / 7739
|
23
|
(HPO:0000204)
|
Cleft upper lip |
Very frequent [Orphanet]
|
|
|
|
193 / 7739
|
24
|
(HPO:0000668)
|
Hypodontia |
|
|
|
|
81 / 7739
|
25
|
(HPO:0000674)
|
Anodontia |
|
|
|
|
18 / 7739
|
26
|
(HPO:0000682)
|
Abnormality of dental enamel |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
27
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
28
|
(HPO:0003307)
|
Hyperlordosis |
Occasional [Orphanet]
|
|
|
|
122 / 7739
|
29
|
(HPO:0010554)
|
Cutaneous finger syndactyly |
|
|
|
|
39 / 7739
|
30
|
(HPO:0000954)
|
Single transverse palmar crease |
Frequent [Orphanet]
|
|
|
|
162 / 7739
|
31
|
(HPO:0001006)
|
Hypotrichosis |
Frequent [Orphanet]
|
|
|
|
219 / 7739
|
32
|
(HPO:0000535)
|
Sparse and thin eyebrow |
|
|
|
|
76 / 7739
|
33
|
(HPO:0007477)
|
Abnormal dermatoglyphics |
Occasional [Orphanet]
|
|
|
|
72 / 7739
|
34
|
(HPO:0000288)
|
Abnormality of the philtrum |
|
|
|
|
54 / 7739
|
35
|
(HPO:0000325)
|
Triangular face |
|
|
|
|
91 / 7739
|
36
|
(HPO:0000598)
|
Abnormality of the ear |
|
|
|
|
98 / 7739
|
37
|
(HPO:0000653)
|
Sparse eyelashes |
|
|
|
|
58 / 7739
|
38
|
(HPO:0000691)
|
Microdontia |
|
|
|
|
104 / 7739
|
39
|
(HPO:0000972)
|
Palmoplantar hyperkeratosis |
|
|
|
|
41 / 7739
|
40
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
41
|
(HPO:0002167)
|
Neurological speech impairment |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
42
|
(HPO:0002296)
|
Progressive hypotrichosis |
|
|
|
|
2 / 7739
|
43
|
(HPO:0004404)
|
Abnormality of the nipple |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
44
|
(HPO:0006101)
|
Finger syndactyly |
Very frequent [Orphanet]
|
|
|
|
198 / 7739
|
45
|
(HPO:0009804)
|
Reduced number of teeth |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
46
|
(HPO:0010719)
|
Abnormality of hair texture |
|
|
|
|
24 / 7739
|
47
|
(OMIM)
|
Anteverted pinnae |
|
|
|
|
1 / 7739
|
48
|
(OMIM)
|
Normal sweating capacity |
|
|
|
|
3 / 7739
|
49
|
(OMIM)
|
Short, brittle hair |
|
|
|
|
1 / 7739
|
50
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
51
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Frequent [Orphanet]
|
|
|
|
156 / 7739
|
52
|
(HPO:0400004)
|
Long ear |
Very frequent [Orphanet]
|
|
|
|
94 / 7739
|
53
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
54
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
55
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
56
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
57
|
(HPO:0000315)
|
Abnormality of the orbital region |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
58
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
59
|
(HPO:0000968)
|
Ectodermal dysplasia |
|
|
|
|
46 / 7739
|