|
1
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
|
2
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
3
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
4
|
(HPO:0000597)
|
Ophthalmoparesis |
|
|
|
|
71 / 7739
|
|
5
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
6
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
7
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
8
|
(HPO:0000670)
|
Carious teeth |
|
|
|
|
145 / 7739
|
|
9
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
10
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
11
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
12
|
(HPO:0001876)
|
Pancytopenia |
|
|
|
|
89 / 7739
|
|
13
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
|
14
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
15
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
16
|
(HPO:0002754)
|
Osteomyelitis |
|
|
|
|
37 / 7739
|
|
17
|
(HPO:0002756)
|
Pathologic fracture |
|
|
|
|
30 / 7739
|
|
18
|
(HPO:0002812)
|
Coxa vara |
|
|
|
|
58 / 7739
|
|
19
|
(HPO:0003015)
|
Flared metaphysis |
|
|
|
|
44 / 7739
|
|
20
|
(HPO:0003155)
|
Elevated alkaline phosphatase |
|
|
|
|
52 / 7739
|
|
21
|
(HPO:0004618)
|
Sandwich appearance of vertebral bodies |
|
|
|
|
2 / 7739
|
|
22
|
(HPO:0007209)
|
Facial paralysis |
|
|
|
|
8 / 7739
|
|
23
|
(HPO:0006824)
|
Cranial nerve paralysis |
|
|
|
|
81 / 7739
|
|
24
|
(OMIM)
|
Distorted primary molars |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Uniformly dense skeleton |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Bone-within-bone appearance |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Thick, dense skull |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Narrowness of neural and vascular foramina |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
30
|
(OMIM)
|
Low serum calcium |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Elevated serum phosphorus |
|
|
|
|
1 / 7739
|