|
1
|
(HPO:0000135)
|
Hypogonadism |
|
|
|
|
89 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
4
|
(HPO:0001488)
|
Bilateral ptosis |
|
|
|
|
42 / 7739
|
|
5
|
(HPO:0006136)
|
Bilateral postaxial polydactyly |
|
|
|
|
30 / 7739
|
|
6
|
(HPO:0000819)
|
Diabetes mellitus |
|
|
|
|
131 / 7739
|
|
7
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
8
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
9
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
10
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
11
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
12
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
|
|
|
|
180 / 7739
|
|
13
|
(HPO:0002123)
|
Generalized myoclonic seizures |
|
|
|
|
62 / 7739
|
|
14
|
(HPO:0002521)
|
Hypsarrhythmia |
|
|
|
|
43 / 7739
|
|
15
|
(HPO:0012448)
|
Delayed myelination |
|
|
|
|
51 / 7739
|
|
16
|
(OMIM)
|
Developmental delay, severe |
|
|
|
|
13 / 7739
|
|
17
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
18
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
19
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
20
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
21
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
22
|
(OMIM)
|
Simplified gyral pattern |
|
|
|
|
11 / 7739
|
|
23
|
(OMIM)
|
Apoptosis of neurons |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Diabetes mellitus, infantile |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Few and small islets of Langerhans |
|
|
|
|
1 / 7739
|