|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
3
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
|
4
|
(HPO:0000289)
|
Broad philtrum |
|
|
|
|
11 / 7739
|
|
5
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
6
|
(HPO:0000337)
|
Broad forehead |
|
|
|
|
116 / 7739
|
|
7
|
(HPO:0000365)
|
Hearing impairment |
rare [HPO:skoehler]
|
|
|
|
539 / 7739
|
|
8
|
(HPO:0000426)
|
Prominent nasal bridge |
|
|
|
|
121 / 7739
|
|
9
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
10
|
(HPO:0000437)
|
Depressed nasal tip |
|
|
|
|
17 / 7739
|
|
11
|
(HPO:0000473)
|
Torticollis |
|
|
|
|
42 / 7739
|
|
12
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
13
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
14
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
15
|
(HPO:0000537)
|
Epicanthus inversus |
|
|
|
|
7 / 7739
|
|
16
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
|
17
|
(HPO:0001249)
|
Intellectual disability |
rare [HPO:skoehler]
|
|
|
|
1089 / 7739
|
|
18
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
19
|
(HPO:0001363)
|
Craniosynostosis |
|
|
|
|
132 / 7739
|
|
20
|
(HPO:0001382)
|
Joint hypermobility |
|
|
|
|
231 / 7739
|
|
21
|
(HPO:0001540)
|
Diastasis recti |
|
|
|
|
23 / 7739
|
|
22
|
(HPO:0002553)
|
Highly arched eyebrow |
|
|
|
|
92 / 7739
|
|
23
|
(HPO:0002714)
|
Downturned corners of mouth |
|
|
|
|
98 / 7739
|
|
24
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
|
25
|
(HPO:0002974)
|
Radioulnar synostosis |
rare [HPO:skoehler]
|
|
|
|
52 / 7739
|
|
26
|
(HPO:0005037)
|
Proximal radio-ulnar synostosis |
|
|
|
|
6 / 7739
|
|
27
|
(HPO:0002996)
|
Limited elbow movement |
|
|
|
|
16 / 7739
|
|
28
|
(HPO:0003468)
|
Abnormality of the vertebrae |
|
|
|
|
77 / 7739
|
|
29
|
(HPO:0005243)
|
Partial abdominal muscle agenesis |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
|
31
|
(HPO:0009004)
|
Hypoplasia of the musculature |
|
|
|
|
7 / 7739
|
|
32
|
(HPO:0010759)
|
Prominence of the premaxilla |
|
|
|
|
5 / 7739
|
|
33
|
(OMIM)
|
Asymmetric head |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Eversion of the lower eyelids |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Broad, flat nasal tip |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Umbilical depression |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Asymmetric skull |
|
|
|
|
6 / 7739
|
|
38
|
(OMIM)
|
Abdominal muscle hypoplasia |
|
|
|
|
1 / 7739
|
|
39
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|