1
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
2
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
3
|
(HPO:0000171)
|
Microglossia |
|
|
|
|
27 / 7739
|
4
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
5
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
6
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
7
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
8
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
9
|
(HPO:0000346)
|
Whistling appearance |
|
|
|
|
4 / 7739
|
10
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
11
|
(HPO:0000426)
|
Prominent nasal bridge |
|
|
|
|
121 / 7739
|
12
|
(HPO:0000430)
|
Underdeveloped nasal alae |
|
|
|
|
90 / 7739
|
13
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
14
|
(HPO:0000506)
|
Telecanthus |
|
|
|
|
156 / 7739
|
15
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
16
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
17
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
18
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
19
|
(HPO:0002987)
|
Elbow flexion contracture |
|
|
|
|
64 / 7739
|
20
|
(HPO:0003044)
|
Shoulder flexion contracture |
|
|
|
|
5 / 7739
|
21
|
(HPO:0006380)
|
Knee flexion contracture |
|
|
|
|
56 / 7739
|
22
|
(HPO:0004097)
|
Deviation of finger |
|
|
|
|
13 / 7739
|
23
|
(HPO:0009465)
|
Ulnar deviation of finger |
|
|
|
|
48 / 7739
|
24
|
(HPO:0010751)
|
Chin dimple |
|
|
|
|
16 / 7739
|
25
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
26
|
(OMIM)
|
Immobile facies |
|
|
|
|
1 / 7739
|
27
|
(OMIM)
|
H or V-shaped chin dimple |
|
|
|
|
1 / 7739
|
28
|
(OMIM)
|
Notched nostrils |
|
|
|
|
1 / 7739
|
29
|
(OMIM)
|
Limited jaw opening |
|
|
|
|
1 / 7739
|
30
|
(OMIM)
|
Shoulder contractures |
|
|
|
|
3 / 7739
|
31
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
32
|
(MedDRA:10020741)
|
Hyperpyrexia |
|
|
|
|
2 / 7739
|
33
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
34
|
(HPO:0012745)
|
Short palpebral fissure |
|
|
|
|
47 / 7739
|
35
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|