|
1
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
|
2
|
(HPO:0000062)
|
Ambiguous genitalia |
|
|
|
|
74 / 7739
|
|
3
|
(HPO:0000253)
|
Progressive microcephaly |
|
|
|
|
37 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
6
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
7
|
(HPO:0002104)
|
Apnea |
|
|
|
|
106 / 7739
|
|
8
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
9
|
(OMIM)
|
Poor fixation and following |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Abnormal breathing pattern |
|
|
|
|
8 / 7739
|
|
11
|
(OMIM)
|
Lack of gonadal tissue |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Testicular regression |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
14
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
15
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
16
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
17
|
(OMIM)
|
Delayed psychomotor development, severe |
|
|
|
|
14 / 7739
|
|
18
|
(OMIM)
|
Poor spontaneous movements |
|
|
|
|
2 / 7739
|
|
19
|
(OMIM)
|
Rudimentary white matter |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Lack of ependymal cells |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Cerebellar neuronal loss |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Increased baseline gonadotropins |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Functional anorchia |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
25
|
(HPO:0000657)
|
Oculomotor apraxia |
|
|
|
|
54 / 7739
|
|
26
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
|
|
97 / 7739
|
|
27
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
28
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
29
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
30
|
(HPO:0012110)
|
Hypoplasia of the pons |
|
|
|
|
16 / 7739
|