|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
|
3
|
(HPO:0000135)
|
Hypogonadism |
|
|
|
|
89 / 7739
|
|
4
|
(HPO:0000194)
|
Open mouth |
|
|
|
|
70 / 7739
|
|
5
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
|
6
|
(HPO:0000341)
|
Narrow forehead |
|
|
|
|
96 / 7739
|
|
7
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
8
|
(HPO:0000565)
|
Esotropia |
|
|
|
|
58 / 7739
|
|
9
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
10
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
11
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
12
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
13
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
14
|
(HPO:0001513)
|
Obesity |
|
|
|
|
172 / 7739
|
|
15
|
(HPO:0001531)
|
Failure to thrive in infancy |
|
|
|
|
26 / 7739
|
|
16
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
|
17
|
(HPO:0002591)
|
Polyphagia |
|
|
|
|
25 / 7739
|
|
18
|
(HPO:0004283)
|
Narrow palm |
|
|
|
|
8 / 7739
|
|
19
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
20
|
(HPO:0010535)
|
Sleep apnea |
|
|
|
|
24 / 7739
|
|
21
|
(HPO:0200055)
|
Small hand |
|
|
|
|
71 / 7739
|
|
22
|
(OMIM)
|
Excessive weight gain after neonatal period |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Almond-shaped eyes |
|
|
|
|
12 / 7739
|
|
24
|
(OMIM)
|
[DEL]Poor feeding in infancy |
|
|
|
|
6 / 7739
|
|
25
|
(OMIM)
|
Hyperphagia later |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Contractures of the interphalangeal joints |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Speech articulation defects |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
29
|
(OMIM)
|
[DEL]Autistic features |
|
|
|
|
43 / 7739
|
|
30
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
31
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
32
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|