1
|
(HPO:0000262)
|
Turricephaly |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
2
|
(HPO:0000271)
|
Abnormality of the face |
Very frequent [Orphanet]
|
|
|
|
108 / 7739
|
3
|
(HPO:0000268)
|
Dolichocephaly |
Very frequent [Orphanet]
|
|
|
|
144 / 7739
|
4
|
(HPO:0000160)
|
Narrow mouth |
Occasional [Orphanet]
|
|
|
|
188 / 7739
|
5
|
(HPO:0000951)
|
Abnormality of the skin |
Very frequent [Orphanet]
|
|
|
|
147 / 7739
|
6
|
(HPO:0001545)
|
Anteriorly placed anus |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
7
|
(HPO:0012090)
|
Abnormality of pancreas morphology |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
8
|
(HPO:0002093)
|
Respiratory insufficiency |
Very frequent [Orphanet]
|
|
|
|
410 / 7739
|
9
|
(HPO:0002098)
|
Respiratory distress |
|
|
|
|
75 / 7739
|
10
|
(HPO:0000238)
|
Hydrocephalus |
Occasional [Orphanet]
|
|
|
|
278 / 7739
|
11
|
(HPO:0000272)
|
Malar flattening |
Very frequent [Orphanet]
|
|
|
|
277 / 7739
|
12
|
(HPO:0000956)
|
Acanthosis nigricans |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
13
|
(HPO:0000316)
|
Hypertelorism |
Occasional [Orphanet]
|
|
|
|
644 / 7739
|
14
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
15
|
(HPO:0000520)
|
Proptosis |
Very frequent [Orphanet]
|
|
|
|
192 / 7739
|
16
|
(HPO:0000189)
|
Narrow palate |
|
|
|
|
45 / 7739
|
17
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
18
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
19
|
(HPO:0000929)
|
Abnormality of the skull |
Very frequent [Orphanet]
|
|
|
|
53 / 7739
|
20
|
(HPO:0000452)
|
Choanal stenosis |
|
|
|
|
23 / 7739
|
21
|
(HPO:0000453)
|
Choanal atresia |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
22
|
(HPO:0000478)
|
Abnormality of the eye |
Occasional [Orphanet]
|
|
|
|
126 / 7739
|
23
|
(HPO:0000048)
|
Bifid scrotum |
Frequent [Orphanet]
|
|
|
|
36 / 7739
|
24
|
(HPO:0011800)
|
Midface retrusion |
Very frequent [Orphanet]
|
|
|
|
221 / 7739
|
25
|
(HPO:0001363)
|
Craniosynostosis |
Frequent [Orphanet]
|
|
|
|
132 / 7739
|
26
|
(HPO:0000508)
|
Ptosis |
Very frequent [Orphanet]
|
|
|
|
459 / 7739
|
27
|
(HPO:0000463)
|
Anteverted nares |
Occasional [Orphanet]
|
|
|
|
305 / 7739
|
28
|
(HPO:0001537)
|
Umbilical hernia |
Occasional [Orphanet]
|
|
|
|
206 / 7739
|
29
|
(HPO:0000822)
|
Hypertension |
Occasional [Orphanet]
|
|
|
|
224 / 7739
|
30
|
(HPO:0011262)
|
Crimped helix |
Occasional [Orphanet]
|
|
|
|
12 / 7739
|
31
|
(HPO:0000995)
|
Melanocytic nevus |
Very frequent [Orphanet]
|
|
|
|
63 / 7739
|
32
|
(HPO:0000598)
|
Abnormality of the ear |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
33
|
(HPO:0001597)
|
Abnormality of the nail |
Occasional [Orphanet]
|
|
|
|
115 / 7739
|
34
|
(HPO:0010650)
|
Hypoplasia of the premaxilla |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
35
|
(HPO:0100761)
|
Visceral angiomatosis |
Very frequent [Orphanet]
|
|
|
|
21 / 7739
|
36
|
(HPO:0000368)
|
Low-set, posteriorly rotated ears |
|
|
|
|
38 / 7739
|
37
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
38
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
39
|
(HPO:0001377)
|
Limited elbow extension |
|
|
|
|
38 / 7739
|
40
|
(HPO:0001792)
|
Small nail |
|
|
|
|
55 / 7739
|
41
|
(HPO:0002676)
|
Cloverleaf skull |
|
|
|
|
14 / 7739
|
42
|
(HPO:0003246)
|
Prominent scrotal raphe |
|
|
|
|
2 / 7739
|
43
|
(HPO:0004450)
|
Preauricular skin furrow |
|
|
|
|
1 / 7739
|
44
|
(HPO:0007517)
|
Palmoplantar cutis laxa |
|
|
|
|
9 / 7739
|
45
|
(HPO:0009804)
|
Reduced number of teeth |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
46
|
(HPO:0009906)
|
Aplasia/Hypoplasia of the earlobes |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
47
|
(OMIM)
|
Normal intrauterine growth |
|
|
|
|
1 / 7739
|
48
|
(OMIM)
|
Prominent umbilical stump |
|
|
|
|
1 / 7739
|
49
|
(OMIM)
|
Rugose labia majora |
|
|
|
|
1 / 7739
|
50
|
(OMIM)
|
Cutis gyrata |
|
|
|
|
2 / 7739
|
51
|
(OMIM)
|
Cutaneous and mucosal skin tags |
|
|
|
|
1 / 7739
|
52
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
53
|
(HPO:0000045)
|
Abnormality of the scrotum |
Frequent [Orphanet]
|
|
|
|
14 / 7739
|
54
|
(HPO:0001031)
|
Subcutaneous lipoma |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|
55
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
56
|
(HPO:0012795)
|
Abnormality of the optic disc |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
57
|
(HPO:0400004)
|
Long ear |
Very frequent [Orphanet]
|
|
|
|
94 / 7739
|
58
|
(HPO:0000962)
|
Hyperkeratosis |
Very frequent [Orphanet]
|
|
|
|
216 / 7739
|
59
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|