|
1
|
(HPO:0001596)
|
Alopecia |
Very frequent [Orphanet]
|
|
|
|
162 / 7739
|
|
2
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
|
3
|
(HPO:0000815)
|
Hypergonadotropic hypogonadism |
|
|
|
|
48 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
|
6
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
7
|
(HPO:0002224)
|
Woolly hair |
|
|
|
|
26 / 7739
|
|
8
|
(HPO:0008734)
|
Decreased testicular size |
|
|
|
|
105 / 7739
|
|
9
|
(OMIM)
|
Tonic-clonic convulsions |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Normal childhood EEG |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Elevated serum FSH |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Damaged or absent hair shaft cuticula by EM (central trichoptilosis) |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Alopecia, congenital, total |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Absent scalp hair, eyelashes, and eyebrows |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Sparse and woolly scalp hair at adolescence |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
17
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
18
|
(HPO:0002069)
|
Generalized tonic-clonic seizures |
|
|
|
|
96 / 7739
|