|
1
|
(HPO:0000293)
|
Full cheeks |
|
|
|
|
85 / 7739
|
|
2
|
(HPO:0000311)
|
Round face |
|
|
|
|
104 / 7739
|
|
3
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
4
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
5
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
6
|
(HPO:0000684)
|
Delayed eruption of teeth |
|
|
|
|
117 / 7739
|
|
7
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
|
8
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
9
|
(HPO:0001249)
|
Intellectual disability |
rare [HPO:skoehler]
|
|
|
|
1089 / 7739
|
|
10
|
(HPO:0001513)
|
Obesity |
|
|
|
|
172 / 7739
|
|
11
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
12
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
13
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
|
|
|
|
64 / 7739
|
|
14
|
(HPO:0005720)
|
Shortening of all metacarpals |
|
|
|
|
12 / 7739
|
|
15
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
|
16
|
(HPO:0004686)
|
Short third metatarsal |
|
|
|
|
9 / 7739
|
|
17
|
(HPO:0010743)
|
Short metatarsal |
|
|
|
|
56 / 7739
|
|
18
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
19
|
(OMIM)
|
Subcutaneous ossifications |
|
|
|
|
3 / 7739
|
|
20
|
(HPO:0100543)
|
Cognitive impairment |
|
|
|
|
230 / 7739
|
|
21
|
(OMIM)
|
No hormone resistance |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Normal urinary cyclic AMP response to PTH administration |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Reduced erythrocyte Gs activity |
|
|
|
|
2 / 7739
|
|
24
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
25
|
(HPO:0000852)
|
Pseudohypoparathyroidism |
|
|
|
|
6 / 7739
|
|
26
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|