|
1
|
(HPO:0000303)
|
Mandibular prognathia |
Frequent [Orphanet]
|
|
|
|
179 / 7739
|
|
2
|
(HPO:0000670)
|
Carious teeth |
Frequent [Orphanet]
|
|
|
|
145 / 7739
|
|
3
|
(HPO:0001744)
|
Splenomegaly |
Very frequent [Orphanet]
|
|
|
|
337 / 7739
|
|
4
|
(HPO:0001873)
|
Thrombocytopenia |
Frequent [Orphanet]
|
|
|
|
224 / 7739
|
|
5
|
(HPO:0001903)
|
Anemia |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
6
|
(HPO:0002240)
|
Hepatomegaly |
Very frequent [Orphanet]
|
|
|
|
467 / 7739
|
|
7
|
(HPO:0002514)
|
Cerebral calcification |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
8
|
(HPO:0002653)
|
Bone pain |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
9
|
(HPO:0002857)
|
Genu valgum |
Very frequent [Orphanet]
|
|
|
|
144 / 7739
|
|
10
|
(HPO:0004349)
|
Reduced bone mineral density |
Very frequent [Orphanet]
|
|
|
|
165 / 7739
|
|
11
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
12
|
(HPO:0006482)
|
Abnormality of dental morphology |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
13
|
(HPO:0009830)
|
Peripheral neuropathy |
Frequent [Orphanet]
|
|
|
|
206 / 7739
|
|
14
|
(HPO:0010885)
|
Aseptic necrosis |
Very frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
15
|
(HPO:0011001)
|
Increased bone mineral density |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
16
|
(HPO:0011002)
|
Osteopetrosis |
|
|
|
|
19 / 7739
|
|
17
|
(HPO:0000572)
|
Visual loss |
Occasional [Orphanet]
|
|
|
|
272 / 7739
|
|
18
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Very frequent [Orphanet]
|
|
|
|
110 / 7739
|
|
19
|
(HPO:0000124)
|
Renal tubular dysfunction |
Very frequent [Orphanet]
|
|
|
|
46 / 7739
|
|
20
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
21
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
22
|
(HPO:0012795)
|
Abnormality of the optic disc |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
|
23
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
24
|
(HPO:0000689)
|
Dental malocclusion |
|
|
|
|
114 / 7739
|
|
25
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
26
|
(HPO:0001433)
|
Hepatosplenomegaly |
|
|
|
|
78 / 7739
|
|
27
|
(HPO:0001978)
|
Extramedullary hematopoiesis |
|
|
|
|
6 / 7739
|
|
28
|
(HPO:0002135)
|
Basal ganglia calcification |
|
|
|
|
37 / 7739
|
|
29
|
(HPO:0003034)
|
Diaphyseal sclerosis |
|
|
|
|
10 / 7739
|
|
30
|
(HPO:0003148)
|
Elevated serum acid phosphatase |
|
|
|
|
7 / 7739
|
|
31
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
32
|
(HPO:0004437)
|
Cranial hyperostosis |
|
|
|
|
55 / 7739
|
|
33
|
(HPO:0007807)
|
Optic nerve compression |
|
|
|
|
6 / 7739
|
|
34
|
(HPO:0008153)
|
Periodic hypokalemic paresis |
|
|
|
|
4 / 7739
|
|
35
|
(HPO:0008341)
|
Distal renal tubular acidosis |
|
|
|
|
6 / 7739
|