|
1
|
(HPO:0000943)
|
Dysostosis multiplex |
|
|
|
|
22 / 7739
|
|
2
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
|
3
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
4
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|
|
5
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
6
|
(HPO:0000280)
|
Coarse facial features |
Very frequent [Orphanet]
|
|
|
|
189 / 7739
|
|
7
|
(HPO:0000365)
|
Hearing impairment |
Very frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
8
|
(HPO:0008002)
|
Abnormality of macular pigmentation |
Very frequent [Orphanet]
|
|
|
|
20 / 7739
|
|
9
|
(HPO:0010729)
|
Cherry red spot of the macula |
|
|
|
|
10 / 7739
|
|
10
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
11
|
(HPO:0007957)
|
Corneal opacity |
|
|
|
|
84 / 7739
|
|
12
|
(HPO:0003468)
|
Abnormality of the vertebrae |
Very frequent [Orphanet]
|
|
|
|
77 / 7739
|
|
13
|
(HPO:0000524)
|
Conjunctival telangiectasia |
|
|
|
|
17 / 7739
|
|
14
|
(HPO:0001028)
|
Hemangioma |
|
|
|
|
23 / 7739
|
|
15
|
(HPO:0001433)
|
Hepatosplenomegaly |
Occasional [HPO:probinson]
|
|
|
|
78 / 7739
|
|
16
|
(HPO:0008166)
|
Decreased beta-galactosidase activity |
|
|
|
|
6 / 7739
|
|
17
|
(OMIM)
|
EM of skin biopsy and peripheral blood lymphocytes shows membrane-bound fibrillogranular inclusions |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Elevated urine sialyloligosaccharides but no free sialic acid |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Neuraminidase deficiency |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Beta-galactosidase deficiency |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Decreased carboxypeptidase-L/protective protein activity |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Widespread hemangiomas |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Mitral valvular disease |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Aortic valvular disease |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Macular cherry red spot |
|
|
|
|
2 / 7739
|
|
26
|
(OMIM)
|
Usually no organomegaly |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Occasionally hepatosplenomegaly |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Vacuolated Kupffer cells |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0000481)
|
Abnormality of the cornea |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
30
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
31
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
32
|
(HPO:0007759)
|
Opacification of the corneal stroma |
|
|
|
|
77 / 7739
|