1
|
(HPO:0000036)
|
Abnormality of the penis |
Frequent [Orphanet]
|
|
|
|
8 / 7739
|
2
|
(HPO:0000280)
|
Coarse facial features |
Frequent [Orphanet]
|
|
|
|
189 / 7739
|
3
|
(HPO:0000311)
|
Round face |
Very frequent [Orphanet]
|
|
|
|
104 / 7739
|
4
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
5
|
(HPO:0000771)
|
Gynecomastia |
Very frequent [Orphanet]
|
|
|
|
53 / 7739
|
6
|
(HPO:0000826)
|
Precocious puberty |
Very frequent [Orphanet]
|
|
|
|
42 / 7739
|
7
|
(HPO:0000836)
|
Hyperthyroidism |
Very frequent [Orphanet]
|
|
|
|
25 / 7739
|
8
|
(HPO:0000853)
|
Goiter |
Frequent [Orphanet]
|
|
|
|
39 / 7739
|
9
|
(HPO:0000957)
|
Cafe-au-lait spot |
Very frequent [Orphanet]
|
|
|
|
84 / 7739
|
10
|
(HPO:0000958)
|
Dry skin |
Frequent [Orphanet]
|
|
|
|
152 / 7739
|
11
|
(HPO:0000963)
|
Thin skin |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
12
|
(HPO:0001513)
|
Obesity |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
13
|
(HPO:0001596)
|
Alopecia |
Occasional [Orphanet]
|
|
|
|
162 / 7739
|
14
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
15
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
16
|
(HPO:0002905)
|
Hyperphosphatemia |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
17
|
(HPO:0010788)
|
Testicular neoplasm |
Occasional [Orphanet]
|
|
|
|
10 / 7739
|
18
|
(HPO:0100013)
|
Neoplasm of the breast |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
19
|
(HPO:0100031)
|
Neoplasm of the thyroid gland |
Occasional [Orphanet]
|
|
|
|
15 / 7739
|
20
|
(HPO:0100242)
|
Sarcoma |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
21
|
(HPO:0100530)
|
Abnormality of calcium-phosphate metabolism |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
22
|
(HPO:0004437)
|
Cranial hyperostosis |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
23
|
(HPO:0000572)
|
Visual loss |
Occasional [Orphanet]
|
|
|
|
272 / 7739
|
24
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
25
|
(HPO:0001385)
|
Hip dysplasia |
Occasional [Orphanet]
|
|
|
|
242 / 7739
|
26
|
(HPO:0002225)
|
Sparse pubic hair |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
27
|
(HPO:0000929)
|
Abnormality of the skull |
Very frequent [Orphanet]
|
|
|
|
53 / 7739
|
28
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Occasional [Orphanet]
|
|
|
|
110 / 7739
|
29
|
(HPO:0000137)
|
Abnormality of the ovary |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
30
|
(HPO:0001031)
|
Subcutaneous lipoma |
Frequent [Orphanet]
|
|
|
|
112 / 7739
|
31
|
(HPO:0001367)
|
Abnormal joint morphology |
Very frequent [Orphanet]
|
|
|
|
53 / 7739
|
32
|
(HPO:0000858)
|
Menstrual irregularities |
Frequent [Orphanet]
|
|
|
|
42 / 7739
|
33
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
34
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
35
|
(HPO:0000135)
|
Hypogonadism |
|
|
|
|
89 / 7739
|
36
|
(HPO:0000293)
|
Full cheeks |
|
|
|
|
85 / 7739
|
37
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
38
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
39
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
40
|
(HPO:0000684)
|
Delayed eruption of teeth |
|
|
|
|
117 / 7739
|
41
|
(HPO:0000821)
|
Hypothyroidism |
|
|
|
|
141 / 7739
|
42
|
(HPO:0000852)
|
Pseudohypoparathyroidism |
|
|
|
|
6 / 7739
|
43
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
44
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
45
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
46
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
47
|
(HPO:0001831)
|
Short toe |
|
|
|
|
52 / 7739
|
48
|
(HPO:0002135)
|
Basal ganglia calcification |
|
|
|
|
37 / 7739
|
49
|
(HPO:0002684)
|
Thickened calvaria |
|
|
|
|
32 / 7739
|
50
|
(HPO:0003165)
|
Elevated circulating parathyroid hormone level |
|
|
|
|
17 / 7739
|
51
|
(HPO:0003456)
|
Low urinary cyclic AMP response to PTH administration |
|
|
|
|
4 / 7739
|
52
|
(HPO:0003472)
|
Hypocalcemic tetany |
|
|
|
|
3 / 7739
|
53
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|
54
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
55
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
56
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
|
|
|
|
64 / 7739
|
57
|
(HPO:0006960)
|
Choroid plexus calcification |
|
|
|
|
5 / 7739
|
58
|
(HPO:0009381)
|
Short finger |
|
|
|
|
45 / 7739
|
59
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
60
|
(HPO:0010743)
|
Short metatarsal |
|
|
|
|
56 / 7739
|
61
|
(HPO:0100543)
|
Cognitive impairment |
|
|
|
|
230 / 7739
|