|
1
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
2
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
3
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
4
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
5
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
6
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
|
7
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
8
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
9
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
10
|
(OMIM)
|
Open fontanel |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
12
|
(HPO:0000402)
|
Stenosis of the external auditory canal |
|
|
|
|
22 / 7739
|
|
13
|
(OMIM)
|
Sclerosis of semicircular canals |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Vision loss, unilateral or bilateral |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Dense bones |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Narrowed medullary space due to encroachment of cortical bone |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Narrow optic canal |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Fully ossified ethmoid air cells |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Fully ossified sphenoid sinuses |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Elevated lactate dehydrogenase |
|
|
|
|
4 / 7739
|
|
21
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
22
|
(HPO:0011002)
|
Osteopetrosis |
|
|
|
|
19 / 7739
|