|
1
|
(HPO:0000365)
|
Hearing impairment |
Frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
2
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
3
|
(HPO:0000545)
|
Myopia |
Frequent [Orphanet]
|
|
|
|
286 / 7739
|
|
4
|
(HPO:0000772)
|
Abnormality of the ribs |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
5
|
(HPO:0001007)
|
Hirsutism |
|
|
|
|
91 / 7739
|
|
6
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
7
|
(HPO:0001276)
|
Hypertonia |
Frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
8
|
(HPO:0001537)
|
Umbilical hernia |
Frequent [Orphanet]
|
|
|
|
206 / 7739
|
|
9
|
(HPO:0001744)
|
Splenomegaly |
Occasional [Orphanet]
|
|
|
|
337 / 7739
|
|
10
|
(HPO:0002024)
|
Malabsorption |
Very frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
11
|
(HPO:0002208)
|
Coarse hair |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
12
|
(HPO:0002240)
|
Hepatomegaly |
Occasional [Orphanet]
|
|
|
|
467 / 7739
|
|
13
|
(HPO:0002066)
|
Gait ataxia |
Frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
14
|
(HPO:0002360)
|
Sleep disturbance |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
|
15
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
16
|
(HPO:0002857)
|
Genu valgum |
Frequent [Orphanet]
|
|
|
|
144 / 7739
|
|
17
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
18
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
19
|
(HPO:0004437)
|
Cranial hyperostosis |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
20
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
21
|
(HPO:0000389)
|
Chronic otitis media |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
22
|
(HPO:0011020)
|
Abnormality of mucopolysaccharide metabolism |
Very frequent [Orphanet]
|
|
|
|
17 / 7739
|
|
23
|
(HPO:0006660)
|
Aplastic clavicles |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
24
|
(HPO:0011362)
|
Abnormal hair quantity |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
25
|
(HPO:0001600)
|
Abnormality of the larynx |
Frequent [Orphanet]
|
|
|
|
15 / 7739
|
|
26
|
(HPO:0000481)
|
Abnormality of the cornea |
Frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
27
|
(HPO:0001522)
|
Death in infancy |
Very frequent [Orphanet]
|
|
|
|
275 / 7739
|
|
28
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
29
|
(HPO:0100543)
|
Cognitive impairment |
Frequent [Orphanet]
|
|
|
|
230 / 7739
|
|
30
|
(HPO:0006568)
|
Increased hepatic glycogen content |
Frequent [Orphanet]
|
|
|
|
34 / 7739
|
|
31
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Frequent [Orphanet]
|
|
|
|
176 / 7739
|
|
32
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
33
|
(HPO:0000250)
|
Dense calvaria |
|
|
|
|
6 / 7739
|
|
34
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
|
35
|
(HPO:0000664)
|
Synophrys |
|
|
|
|
112 / 7739
|
|
36
|
(HPO:0000752)
|
Hyperactivity |
|
|
|
|
140 / 7739
|
|
37
|
(HPO:0000900)
|
Thickened ribs |
|
|
|
|
9 / 7739
|
|
38
|
(HPO:0000943)
|
Dysostosis multiplex |
|
|
|
|
22 / 7739
|
|
39
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
40
|
(HPO:0001507)
|
Growth abnormality |
|
|
|
|
36 / 7739
|
|
41
|
(HPO:0001670)
|
Asymmetric septal hypertrophy |
|
|
|
|
19 / 7739
|
|
42
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
43
|
(HPO:0002159)
|
Heparan sulfate excretion in urine |
|
|
|
|
12 / 7739
|
|
44
|
(HPO:0002788)
|
Recurrent upper respiratory tract infections |
|
|
|
|
31 / 7739
|
|
45
|
(HPO:0003309)
|
Ovoid thoracolumbar vertebrae |
|
|
|
|
6 / 7739
|