|
1
|
(HPO:0000232)
|
Everted lower lip vermilion |
|
|
|
|
90 / 7739
|
|
2
|
(HPO:0000250)
|
Dense calvaria |
|
|
|
|
6 / 7739
|
|
3
|
(HPO:0000268)
|
Dolichocephaly |
|
|
|
|
144 / 7739
|
|
4
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
|
5
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
6
|
(HPO:0000510)
|
Rod-cone dystrophy |
|
|
|
|
266 / 7739
|
|
7
|
(HPO:0000664)
|
Synophrys |
|
|
|
|
112 / 7739
|
|
8
|
(HPO:0000752)
|
Hyperactivity |
|
|
|
|
140 / 7739
|
|
9
|
(HPO:0000900)
|
Thickened ribs |
|
|
|
|
9 / 7739
|
|
10
|
(HPO:0000943)
|
Dysostosis multiplex |
|
|
|
|
22 / 7739
|
|
11
|
(HPO:0001007)
|
Hirsutism |
|
|
|
|
91 / 7739
|
|
12
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
13
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
14
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
15
|
(HPO:0001387)
|
Joint stiffness |
|
|
|
|
322 / 7739
|
|
16
|
(HPO:0001507)
|
Growth abnormality |
|
|
|
|
36 / 7739
|
|
17
|
(HPO:0001670)
|
Asymmetric septal hypertrophy |
|
|
|
|
19 / 7739
|
|
18
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
19
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
20
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
21
|
(HPO:0002159)
|
Heparan sulfate excretion in urine |
|
|
|
|
12 / 7739
|
|
22
|
(HPO:0002208)
|
Coarse hair |
|
|
|
|
58 / 7739
|
|
23
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
24
|
(HPO:0002333)
|
Motor deterioration |
|
|
|
|
7 / 7739
|
|
25
|
(HPO:0002360)
|
Sleep disturbance |
|
|
|
|
113 / 7739
|
|
26
|
(HPO:0002371)
|
Loss of speech |
|
|
|
|
15 / 7739
|
|
27
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
28
|
(HPO:0002788)
|
Recurrent upper respiratory tract infections |
|
|
|
|
31 / 7739
|
|
29
|
(HPO:0003309)
|
Ovoid thoracolumbar vertebrae |
|
|
|
|
6 / 7739
|
|
30
|
(HPO:0003653)
|
Cellular metachromasia |
|
|
|
|
2 / 7739
|
|
31
|
(HPO:0100790)
|
Hernia |
|
|
|
|
9 / 7739
|
|
32
|
(OMIM)
|
Usually normal stature |
|
|
|
|
2 / 7739
|
|
33
|
(OMIM)
|
Coarse facies, mild |
|
|
|
|
3 / 7739
|
|
34
|
(OMIM)
|
Thickening of the helices |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Clear cornea |
|
|
|
|
6 / 7739
|
|
36
|
(OMIM)
|
Fleshy nasal tip |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Hepatomegaly, mild |
|
|
|
|
8 / 7739
|
|
38
|
(OMIM)
|
Mild splenomegaly |
|
|
|
|
6 / 7739
|
|
39
|
(OMIM)
|
Dysostosis multiplex, mild (in some patients) |
|
|
|
|
5 / 7739
|
|
40
|
(OMIM)
|
Slowing mental development by 1.5 to 3 years of age |
|
|
|
|
3 / 7739
|
|
41
|
(OMIM)
|
Sleep disturbances common |
|
|
|
|
3 / 7739
|
|
42
|
(OMIM)
|
Loss of speech development |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Severe behavioral problems at age 3-4 |
|
|
|
|
2 / 7739
|
|
44
|
(OMIM)
|
Temper tantrums |
|
|
|
|
2 / 7739
|
|
45
|
(OMIM)
|
Acetyl CoA:alpha-glucosaminidase N-acetyltransferase deficiency in fibroblasts |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Metachromasia of white blood cells and fibroblasts |
|
|
|
|
2 / 7739
|
|
47
|
(OMIM)
|
Enzyme replacement therapy has not been effective |
|
|
|
|
1 / 7739
|
|
48
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
49
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|