1
|
(HPO:0000135)
|
Hypogonadism |
|
|
|
|
89 / 7739
|
2
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
3
|
(HPO:0000668)
|
Hypodontia |
|
|
|
|
81 / 7739
|
4
|
(HPO:0000670)
|
Carious teeth |
|
|
|
|
145 / 7739
|
5
|
(HPO:0000771)
|
Gynecomastia |
|
|
|
|
53 / 7739
|
6
|
(HPO:0000823)
|
Delayed puberty |
|
|
|
|
65 / 7739
|
7
|
(HPO:0000953)
|
Hyperpigmentation of the skin |
|
|
|
|
75 / 7739
|
8
|
(HPO:0000995)
|
Melanocytic nevus |
|
|
|
|
63 / 7739
|
9
|
(HPO:0003758)
|
Reduced subcutaneous adipose tissue |
|
|
|
|
27 / 7739
|
10
|
(HPO:0001193)
|
Ulnar deviation of the hand or of fingers of the hand |
|
|
|
|
17 / 7739
|
11
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
12
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
13
|
(HPO:0001596)
|
Alopecia |
|
|
|
|
162 / 7739
|
14
|
(HPO:0002333)
|
Motor deterioration |
|
|
|
|
7 / 7739
|
15
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
16
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
17
|
(HPO:0011734)
|
Central adrenal insufficiency |
|
|
|
|
2 / 7739
|
18
|
(HPO:0006480)
|
Premature loss of teeth |
|
|
|
|
23 / 7739
|
19
|
(OMIM)
|
Hyperpigmentation in flexure areas |
|
|
|
|
1 / 7739
|
20
|
(OMIM)
|
Alopecia, variable severity |
|
|
|
|
1 / 7739
|
21
|
(OMIM)
|
Scalp biopsy shows absence of mature hair follicles |
|
|
|
|
1 / 7739
|
22
|
(OMIM)
|
Mental retardation, moderate to severe |
|
|
|
|
20 / 7739
|
23
|
(OMIM)
|
Motor deterioration in second decade |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
Upper motor neuron dysfunction |
|
|
|
|
1 / 7739
|
25
|
(OMIM)
|
Lower motor neuron dysfunction |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Brain MRI shows hypoplastic pituitary |
|
|
|
|
1 / 7739
|
27
|
(HPO:0000044)
|
Hypogonadotrophic hypogonadism |
|
|
|
|
56 / 7739
|
28
|
(OMIM)
|
Absent or delayed puberty |
|
|
|
|
11 / 7739
|
29
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
30
|
(HPO:0002493)
|
Upper motor neuron dysfunction |
|
|
|
|
5 / 7739
|