|
1
|
(HPO:0001582)
|
Redundant skin |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000271)
|
Abnormality of the face |
Occasional [Orphanet]
|
|
|
|
108 / 7739
|
|
4
|
(HPO:0000356)
|
Abnormality of the outer ear |
Occasional [Orphanet]
|
|
|
|
85 / 7739
|
|
5
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
6
|
(HPO:0000045)
|
Abnormality of the scrotum |
Occasional [Orphanet]
|
|
|
|
14 / 7739
|
|
7
|
(HPO:0007400)
|
Irregular hyperpigmentation |
Frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
8
|
(HPO:0000482)
|
Microcornea |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
|
9
|
(HPO:0000488)
|
Retinopathy |
Occasional [Orphanet]
|
|
|
|
75 / 7739
|
|
10
|
(HPO:0001537)
|
Umbilical hernia |
Occasional [Orphanet]
|
|
|
|
206 / 7739
|
|
11
|
(HPO:0001072)
|
Thickened skin |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
|
12
|
(HPO:0100006)
|
Neoplasm of the central nervous system |
Occasional [Orphanet]
|
|
|
|
34 / 7739
|
|
13
|
(HPO:0100559)
|
Lower limb asymmetry |
Occasional [Orphanet]
|
|
|
|
30 / 7739
|
|
14
|
(HPO:0001635)
|
Congestive heart failure |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
|
15
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
|
16
|
(HPO:0000286)
|
Epicanthus |
Occasional [Orphanet]
|
|
|
|
371 / 7739
|
|
17
|
(HPO:0000343)
|
Long philtrum |
Occasional [Orphanet]
|
|
|
|
262 / 7739
|
|
18
|
(HPO:0000047)
|
Hypospadias |
Occasional [Orphanet]
|
|
|
|
250 / 7739
|
|
19
|
(HPO:0000951)
|
Abnormality of the skin |
|
|
|
|
147 / 7739
|
|
20
|
(HPO:0000969)
|
Edema |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
21
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|
|
22
|
(HPO:0003011)
|
Abnormality of the musculature |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
|
23
|
(HPO:0006768)
|
Localized neuroblastoma |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Occasional [Orphanet]
|
|
|
|
142 / 7739
|
|
25
|
(OMIM)
|
Deep gyrus-like skin folds on the back |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Circumferential deep skin folds of limbs |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0200040)
|
Epidermoid cyst |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
28
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
29
|
(HPO:0011362)
|
Abnormal hair quantity |
Occasional [Orphanet]
|
|
|
|
92 / 7739
|
|
30
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
31
|
(HPO:0000357)
|
Abnormal location of ears |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
|
32
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Occasional [Orphanet]
|
|
|
|
96 / 7739
|
|
33
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
|
34
|
(HPO:0000277)
|
Abnormality of the mandible |
Occasional [Orphanet]
|
|
|
|
394 / 7739
|
|
35
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
|
36
|
(HPO:0002817)
|
Abnormality of the upper limb |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
|
37
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
38
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|