|
1
|
(HPO:0000457)
|
Depressed nasal ridge |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
2
|
(HPO:0011304)
|
Broad thumb |
|
|
|
|
39 / 7739
|
|
3
|
(HPO:0002084)
|
Encephalocele |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
|
4
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
5
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
6
|
(HPO:0000625)
|
Cleft eyelid |
Frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
7
|
(HPO:0000960)
|
Sacral dimple |
|
|
|
|
29 / 7739
|
|
8
|
(HPO:0010769)
|
Pilonidal sinus |
Occasional [Orphanet]
|
|
|
|
35 / 7739
|
|
9
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
|
|
190 / 7739
|
|
10
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
11
|
(HPO:0008388)
|
Abnormality of the toenails |
Occasional [Orphanet]
|
|
|
|
28 / 7739
|
|
12
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
13
|
(HPO:0000520)
|
Proptosis |
Frequent [Orphanet]
|
|
|
|
192 / 7739
|
|
14
|
(HPO:0000239)
|
Large fontanelles |
Frequent [Orphanet]
|
|
|
|
135 / 7739
|
|
15
|
(HPO:0000260)
|
Wide anterior fontanel |
|
|
|
|
55 / 7739
|
|
16
|
(HPO:0000248)
|
Brachycephaly |
Frequent [Orphanet]
|
|
|
|
222 / 7739
|
|
17
|
(HPO:0001177)
|
Preaxial hand polydactyly |
Frequent [Orphanet]
|
|
|
|
59 / 7739
|
|
18
|
(HPO:0000048)
|
Bifid scrotum |
Frequent [Orphanet]
|
|
|
|
36 / 7739
|
|
19
|
(HPO:0000501)
|
Glaucoma |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
|
20
|
(HPO:0002536)
|
Abnormal cortical gyration |
Occasional [Orphanet]
|
|
|
|
72 / 7739
|
|
21
|
(HPO:0000508)
|
Ptosis |
Frequent [Orphanet]
|
|
|
|
459 / 7739
|
|
22
|
(HPO:0010055)
|
Broad hallux |
Frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
23
|
(HPO:0000337)
|
Broad forehead |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
24
|
(HPO:0000049)
|
Shawl scrotum |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
25
|
(HPO:0000343)
|
Long philtrum |
Frequent [Orphanet]
|
|
|
|
262 / 7739
|
|
26
|
(HPO:0000047)
|
Hypospadias |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
27
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
28
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
29
|
(HPO:0000349)
|
Widow's peak |
|
|
|
|
26 / 7739
|
|
30
|
(HPO:0000396)
|
Overfolded helix |
|
|
|
|
21 / 7739
|
|
31
|
(HPO:0000474)
|
Thickened nuchal skin fold |
|
|
|
|
10 / 7739
|
|
32
|
(HPO:0005989)
|
Redundant neck skin |
|
|
|
|
40 / 7739
|
|
33
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
|
34
|
(HPO:0001161)
|
Hand polydactyly |
|
|
|
|
71 / 7739
|
|
35
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
36
|
(HPO:0006101)
|
Finger syndactyly |
Very frequent [Orphanet]
|
|
|
|
198 / 7739
|
|
37
|
(OMIM)
|
Microbrachycephaly |
|
|
|
|
2 / 7739
|
|
38
|
(OMIM)
|
Large philtrum |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Hypoplastic, overfolded helices |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Marked hypertelorism |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Midline groove |
|
|
|
|
1 / 7739
|
|
42
|
(HPO:0001770)
|
Toe syndactyly |
|
|
|
|
149 / 7739
|
|
43
|
(HPO:0004691)
|
2-3 toe syndactyly |
|
|
|
|
50 / 7739
|
|
44
|
(HPO:0009700)
|
Finger symphalangism |
|
|
|
|
55 / 7739
|
|
45
|
(HPO:0010621)
|
Cutaneous syndactyly of toes |
|
|
|
|
36 / 7739
|
|
46
|
(HPO:0010442)
|
Polydactyly |
|
|
|
|
69 / 7739
|
|
47
|
(HPO:0001172)
|
Abnormality of the thumb |
Frequent [Orphanet]
|
|
|
|
103 / 7739
|
|
48
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
49
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|