|
1
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
|
2
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
3
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
4
|
(HPO:0000670)
|
Carious teeth |
|
|
|
|
145 / 7739
|
|
5
|
(HPO:0001433)
|
Hepatosplenomegaly |
|
|
|
|
78 / 7739
|
|
6
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
7
|
(HPO:0001876)
|
Pancytopenia |
|
|
|
|
89 / 7739
|
|
8
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
|
9
|
(HPO:0001978)
|
Extramedullary hematopoiesis |
|
|
|
|
6 / 7739
|
|
10
|
(HPO:0002757)
|
Recurrent fractures |
|
|
|
|
47 / 7739
|
|
11
|
(HPO:0002857)
|
Genu valgum |
|
|
|
|
144 / 7739
|
|
12
|
(HPO:0003034)
|
Diaphyseal sclerosis |
|
|
|
|
10 / 7739
|
|
13
|
(HPO:0004437)
|
Cranial hyperostosis |
|
|
|
|
55 / 7739
|
|
14
|
(HPO:0004499)
|
Chronic rhinitis due to narrow nasal airway |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0006335)
|
Persistence of primary teeth |
|
|
|
|
12 / 7739
|
|
16
|
(HPO:0007209)
|
Facial paralysis |
|
|
|
|
8 / 7739
|
|
17
|
(HPO:0007626)
|
Mandibular osteomyelitis |
|
|
|
|
2 / 7739
|
|
18
|
(OMIM)
|
Facial paralysis due to cranial nerve VII compression |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
|
20
|
(HPO:0011001)
|
Increased bone mineral density |
|
|
|
|
78 / 7739
|
|
21
|
(HPO:0000164)
|
Abnormality of the teeth |
|
|
|
|
291 / 7739
|
|
22
|
(OMIM)
|
Tooth crown malformation |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Early blindness |
|
|
|
|
6 / 7739
|
|
24
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
25
|
(HPO:0011002)
|
Osteopetrosis |
|
|
|
|
19 / 7739
|