|
1
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
2
|
(HPO:0000519)
|
Congenital cataract |
|
|
|
|
73 / 7739
|
|
3
|
(HPO:0000540)
|
Hypermetropia |
|
|
|
|
99 / 7739
|
|
4
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
5
|
(HPO:0000829)
|
Hypoparathyroidism |
|
|
|
|
22 / 7739
|
|
6
|
(HPO:0000935)
|
Thickened cortex of long bones |
|
|
|
|
8 / 7739
|
|
7
|
(HPO:0001085)
|
Papilledema |
|
|
|
|
31 / 7739
|
|
8
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
9
|
(HPO:0001476)
|
Delayed closure of the anterior fontanelle |
|
|
|
|
23 / 7739
|
|
10
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
|
11
|
(HPO:0001620)
|
High pitched voice |
|
|
|
|
32 / 7739
|
|
12
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
|
13
|
(HPO:0002135)
|
Basal ganglia calcification |
|
|
|
|
37 / 7739
|
|
14
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|
|
15
|
(HPO:0011001)
|
Increased bone mineral density |
|
|
|
|
78 / 7739
|
|
16
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
17
|
(OMIM)
|
Corneal and retinal calcification |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Defective dentition (in some patients) |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Microorchidism |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Dense tubular bones and narrow marrow cavities |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
|
22
|
(OMIM)
|
Tetany, hypocalcemic, episodic |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Low calcitonin |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Small to absent parathyroid glands |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Hypocalcemia, transient |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Hyperphosphatemia, transient |
|
|
|
|
1 / 7739
|