|
1
|
(HPO:0001182)
|
Tapered finger |
Very frequent [Orphanet]
|
|
|
|
93 / 7739
|
|
2
|
(HPO:0003198)
|
Myopathy |
Very frequent [Orphanet]
|
|
|
|
151 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
4
|
(HPO:0000426)
|
Prominent nasal bridge |
Very frequent [Orphanet]
|
|
|
|
121 / 7739
|
|
5
|
(HPO:0002553)
|
Highly arched eyebrow |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
6
|
(HPO:0000431)
|
Wide nasal bridge |
Very frequent [Orphanet]
|
|
|
|
290 / 7739
|
|
7
|
(HPO:0000767)
|
Pectus excavatum |
Very frequent [Orphanet]
|
|
|
|
244 / 7739
|
|
8
|
(HPO:0000691)
|
Microdontia |
Very frequent [Orphanet]
|
|
|
|
104 / 7739
|
|
9
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
10
|
(HPO:0001315)
|
Reduced tendon reflexes |
Very frequent [Orphanet]
|
|
|
|
160 / 7739
|
|
11
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
12
|
(HPO:0000486)
|
Strabismus |
Very frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
13
|
(HPO:0000194)
|
Open mouth |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
14
|
(HPO:0000189)
|
Narrow palate |
|
|
|
|
45 / 7739
|
|
15
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
16
|
(HPO:0002705)
|
High, narrow palate |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
17
|
(HPO:0002019)
|
Constipation |
Very frequent [Orphanet]
|
|
|
|
194 / 7739
|
|
18
|
(HPO:0002750)
|
Delayed skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
19
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
20
|
(HPO:0001018)
|
Abnormal palmar dermatoglyphics |
|
|
|
|
4 / 7739
|
|
21
|
(HPO:0007477)
|
Abnormal dermatoglyphics |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
22
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
23
|
(HPO:0000343)
|
Long philtrum |
Very frequent [Orphanet]
|
|
|
|
262 / 7739
|
|
24
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
25
|
(HPO:0002307)
|
Drooling |
|
|
|
|
43 / 7739
|
|
26
|
(HPO:0002353)
|
EEG abnormality |
|
|
|
|
188 / 7739
|
|
27
|
(HPO:0003270)
|
Abdominal distention |
|
|
|
|
46 / 7739
|
|
28
|
(HPO:0005832)
|
Dysharmonic delayed bone age |
|
|
|
|
3 / 7739
|
|
29
|
(HPO:0011344)
|
Severe global developmental delay |
|
|
|
|
46 / 7739
|
|
30
|
(HPO:0012450)
|
Chronic constipation |
|
|
|
|
10 / 7739
|
|
31
|
(OMIM)
|
Eyes |
|
|
|
|
1 / 7739
|
|
32
|
(HPO:0200000)
|
Dysharmonic bone age |
|
|
|
|
3 / 7739
|
|
33
|
(OMIM)
|
Marked, central, nonprogressive hypotonia |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Preponderance and larger size of type 2 muscle fibers |
|
|
|
|
1 / 7739
|
|
35
|
(HPO:0000035)
|
Abnormality of the testis |
Very frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
36
|
(HPO:0011849)
|
Abnormal bone ossification |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
37
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|