1
|
(HPO:0001006)
|
Hypotrichosis |
Frequent [Orphanet]
|
|
|
|
219 / 7739
|
2
|
(HPO:0002209)
|
Sparse scalp hair |
Frequent [Orphanet]
|
|
|
|
59 / 7739
|
3
|
(HPO:0004528)
|
Generalized hypotrichosis |
Frequent [Orphanet]
|
|
|
|
18 / 7739
|
4
|
(HPO:0000135)
|
Hypogonadism |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
5
|
(HPO:0000823)
|
Delayed puberty |
Very frequent [Orphanet]
|
|
|
|
65 / 7739
|
6
|
(HPO:0100651)
|
Type I diabetes mellitus |
Very frequent [Orphanet]
|
|
|
|
44 / 7739
|
7
|
(HPO:0000365)
|
Hearing impairment |
Very frequent [Orphanet]
|
|
|
|
539 / 7739
|
8
|
(HPO:0011675)
|
Arrhythmia |
Very frequent [Orphanet]
|
|
|
|
226 / 7739
|
9
|
(HPO:0001249)
|
Intellectual disability |
Very frequent [Orphanet]
|
|
|
|
1089 / 7739
|
10
|
(HPO:0001263)
|
Global developmental delay |
Very frequent [Orphanet]
|
|
|
|
853 / 7739
|
11
|
(HPO:0001270)
|
Motor delay |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
12
|
(HPO:0001328)
|
Specific learning disability |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
13
|
(HPO:0002215)
|
Sparse axillary hair |
Very frequent [Orphanet]
|
|
|
|
21 / 7739
|
14
|
(HPO:0002225)
|
Sparse pubic hair |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
15
|
(HPO:0002231)
|
Sparse body hair |
Very frequent [Orphanet]
|
|
|
|
9 / 7739
|
16
|
(HPO:0000013)
|
Hypoplasia of the uterus |
|
|
|
|
21 / 7739
|
17
|
(HPO:0000044)
|
Hypogonadotrophic hypogonadism |
|
|
|
|
56 / 7739
|
18
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
19
|
(HPO:0000078)
|
Abnormality of the genital system |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
20
|
(HPO:0000325)
|
Triangular face |
|
|
|
|
91 / 7739
|
21
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
22
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
23
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
24
|
(HPO:0000411)
|
Protruding ear |
|
|
|
|
140 / 7739
|
25
|
(HPO:0009904)
|
Prominent ear helix |
|
|
|
|
8 / 7739
|
26
|
(HPO:0000426)
|
Prominent nasal bridge |
|
|
|
|
121 / 7739
|
27
|
(HPO:0000674)
|
Anodontia |
|
|
|
|
18 / 7739
|
28
|
(HPO:0000709)
|
Psychosis |
|
|
|
|
61 / 7739
|
29
|
(HPO:0000738)
|
Hallucinations |
|
|
|
|
60 / 7739
|
30
|
(HPO:0000815)
|
Hypergonadotropic hypogonadism |
|
|
|
|
48 / 7739
|
31
|
(HPO:0000819)
|
Diabetes mellitus |
|
|
|
|
131 / 7739
|
32
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
33
|
(HPO:0001266)
|
Choreoathetosis |
|
|
|
|
57 / 7739
|
34
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
35
|
(HPO:0001587)
|
Primary ovarian failure |
|
|
|
|
9 / 7739
|
36
|
(HPO:0001596)
|
Alopecia |
|
|
|
|
162 / 7739
|
37
|
(HPO:0002289)
|
Alopecia universalis |
|
|
|
|
20 / 7739
|
38
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
|
|
|
|
76 / 7739
|
39
|
(HPO:0002213)
|
Fine hair |
|
|
|
|
77 / 7739
|
40
|
(HPO:0002925)
|
Thyroid-stimulating hormone excess |
|
|
|
|
12 / 7739
|
41
|
(HPO:0003077)
|
Hyperlipidemia |
|
|
|
|
37 / 7739
|
42
|
(HPO:0005135)
|
EKG: T-wave abnormalities |
|
|
|
|
19 / 7739
|
43
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
44
|
(HPO:0008697)
|
Hypoplasia of the fallopian tube |
|
|
|
|
3 / 7739
|
45
|
(HPO:0008734)
|
Decreased testicular size |
|
|
|
|
105 / 7739
|
46
|
(HPO:0001678)
|
Atrioventricular block |
|
|
|
|
59 / 7739
|
47
|
(HPO:0100543)
|
Cognitive impairment |
Very frequent [Orphanet]
|
|
|
|
230 / 7739
|
48
|
(OMIM)
|
ECG shows flattened T waves |
|
|
|
|
1 / 7739
|
49
|
(OMIM)
|
Testicular biopsy shows hypospermatogenesis |
|
|
|
|
1 / 7739
|
50
|
(OMIM)
|
Atrophic seminiferous tubules |
|
|
|
|
1 / 7739
|
51
|
(HPO:0010464)
|
Streak ovary |
|
|
|
|
8 / 7739
|
52
|
(OMIM)
|
Alopecia, partial, primarily involving scalp and eyebrows |
|
|
|
|
1 / 7739
|
53
|
(OMIM)
|
Short, sparse, fine hair |
|
|
|
|
1 / 7739
|
54
|
(OMIM)
|
Loss of eyebrow hair |
|
|
|
|
1 / 7739
|
55
|
(OMIM)
|
Progressive cognitive decline following normal development in childhood (in some patients) |
|
|
|
|
1 / 7739
|
56
|
(OMIM)
|
MRI shows white matter lesions |
|
|
|
|
2 / 7739
|
57
|
(OMIM)
|
MRI shows decreased signal intensities in the basal ganglia |
|
|
|
|
1 / 7739
|
58
|
(OMIM)
|
Hypogonadotropic hypergonadism |
|
|
|
|
1 / 7739
|
59
|
(OMIM)
|
Failure of secondary sexual development |
|
|
|
|
1 / 7739
|
60
|
(OMIM)
|
Decreased testosterone |
|
|
|
|
2 / 7739
|
61
|
(OMIM)
|
Decreased estradiol |
|
|
|
|
1 / 7739
|
62
|
(OMIM)
|
Decreased serum insulin-like growth factor 1 (IGF1) |
|
|
|
|
3 / 7739
|
63
|
(MedDRA:10043816)
|
Thyroxine decreased |
|
|
|
|
3 / 7739
|