|
1
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
2
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
3
|
(HPO:0000684)
|
Delayed eruption of teeth |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
4
|
(HPO:0002901)
|
Hypocalcemia |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
5
|
(HPO:0000829)
|
Hypoparathyroidism |
Very frequent [Orphanet]
|
|
|
|
22 / 7739
|
|
6
|
(HPO:0002514)
|
Cerebral calcification |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
7
|
(HPO:0011675)
|
Arrhythmia |
Frequent [Orphanet]
|
|
|
|
226 / 7739
|
|
8
|
(HPO:0100530)
|
Abnormality of calcium-phosphate metabolism |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
|
9
|
(HPO:0000682)
|
Abnormality of dental enamel |
Frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
10
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
11
|
(HPO:0000464)
|
Abnormality of the neck |
|
|
|
|
31 / 7739
|
|
12
|
(HPO:0001281)
|
Tetany |
|
|
|
|
20 / 7739
|
|
13
|
(HPO:0008198)
|
Congenital hypoparathyroidism |
|
|
|
|
3 / 7739
|
|
14
|
(OMIM)
|
Neonatal true idiopathic hypoparathyroidism |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Absent parathyroid glands |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0001417)
|
X-linked inheritance |
|
|
|
|
173 / 7739
|