|
1
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
2
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
5
|
(HPO:0000298)
|
Mask-like facies |
|
|
|
|
44 / 7739
|
|
6
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
7
|
(HPO:0000346)
|
Whistling appearance |
|
|
|
|
4 / 7739
|
|
8
|
(HPO:0000430)
|
Underdeveloped nasal alae |
|
|
|
|
90 / 7739
|
|
9
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
10
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
11
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
12
|
(HPO:0000490)
|
Deeply set eye |
|
|
|
|
131 / 7739
|
|
13
|
(HPO:0000506)
|
Telecanthus |
|
|
|
|
156 / 7739
|
|
14
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
15
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
|
16
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
17
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
18
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
19
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
20
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
|
21
|
(HPO:0001611)
|
Nasal speech |
|
|
|
|
48 / 7739
|
|
22
|
(HPO:0001623)
|
Breech presentation |
|
|
|
|
16 / 7739
|
|
23
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
24
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
|
|
85 / 7739
|
|
25
|
(HPO:0002047)
|
Malignant hyperthermia |
|
|
|
|
20 / 7739
|
|
26
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
27
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
|
28
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
29
|
(HPO:0003273)
|
Hip contracture |
|
|
|
|
30 / 7739
|
|
30
|
(HPO:0003298)
|
Spina bifida occulta |
|
|
|
|
67 / 7739
|
|
31
|
(HPO:0006380)
|
Knee flexion contracture |
|
|
|
|
56 / 7739
|
|
32
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
|
33
|
(HPO:0012368)
|
Flat face |
|
|
|
|
106 / 7739
|
|
34
|
(OMIM)
|
Full forehead |
|
|
|
|
2 / 7739
|
|
35
|
(OMIM)
|
H-shaped chin dimple |
|
|
|
|
1 / 7739
|
|
36
|
(HPO:0000205)
|
Pursed lips |
|
|
|
|
6 / 7739
|
|
37
|
(OMIM)
|
Shoulder contractures |
|
|
|
|
3 / 7739
|
|
38
|
(OMIM)
|
Ulnar deviation |
|
|
|
|
5 / 7739
|
|
39
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
40
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
|
41
|
(OMIM)
|
Contracted toes |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Thickened skin over flexor surface of proximal phalanges |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Mild muscle weakness |
|
|
|
|
4 / 7739
|
|
44
|
(OMIM)
|
Skeletal muscle biopsy shows fiber size variability |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Type 1 fiber type predominance |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Small type 1 fibers |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Increased interstitial connective tissue |
|
|
|
|
1 / 7739
|
|
48
|
(OMIM)
|
Hyperpyrexia, usually associated with anesthesia |
|
|
|
|
1 / 7739
|