Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
2
 (HPO:0011304) Broad thumb 39 / 7739
3
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
4
 (HPO:0000280) Coarse facial features Frequent [Orphanet] 189 / 7739
5
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
6
 (HPO:0003134) Abnormality of peripheral nerve conduction Very frequent [Orphanet] 38 / 7739
7
 (HPO:0000505) Visual impairment Very frequent [Orphanet] 297 / 7739
8
 (HPO:0000574) Thick eyebrow Frequent [Orphanet] 96 / 7739
9
 (HPO:0000238) Hydrocephalus Frequent [Orphanet] 278 / 7739
10
 (HPO:0000256) Macrocephaly Frequent [Orphanet] 298 / 7739
11
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
12
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
13
 (HPO:0007957) Corneal opacity variable [HPO:skoehler] 84 / 7739
14
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
15
 (HPO:0002208) Coarse hair Frequent [Orphanet] 58 / 7739
16
 (HPO:0008064) Ichthyosis Very frequent [Orphanet] 108 / 7739
17
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
18
 (HPO:0001744) Splenomegaly Very frequent [Orphanet] 337 / 7739
19
 (HPO:0010055) Broad hallux Frequent [Orphanet] 56 / 7739
20
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
21
 (HPO:0002240) Hepatomegaly Very frequent [Orphanet] 467 / 7739
22
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
23
 (HPO:0011020) Abnormality of mucopolysaccharide metabolism Very frequent [Orphanet] 17 / 7739
24
 (HPO:0000407) Sensorineural hearing impairment Frequent [Orphanet] 524 / 7739
25
 (HPO:0000510) Rod-cone dystrophy Frequent [Orphanet] 266 / 7739
26
 (HPO:0001249) Intellectual disability 1089 / 7739
27
 (HPO:0001263) Global developmental delay 853 / 7739
28
 (HPO:0000288) Abnormality of the philtrum Frequent [Orphanet] 54 / 7739
29
 (HPO:0000365) Hearing impairment 539 / 7739
30
 (HPO:0000546) Retinal degeneration 61 / 7739
31
 (HPO:0000943) Dysostosis multiplex 22 / 7739
32
 (HPO:0001251) Ataxia 413 / 7739
33
 (HPO:0001257) Spasticity 251 / 7739
34
 (HPO:0001272) Cerebellar atrophy 197 / 7739
35
 (HPO:0001319) Neonatal hypotonia 101 / 7739
36
 (HPO:0002003) Large forehead 9 / 7739
37
 (HPO:0002059) Cerebral atrophy 171 / 7739
38
 (HPO:0002119) Ventriculomegaly 253 / 7739
39
 (HPO:0002395) Lower limb hyperreflexia 26 / 7739
40
 (HPO:0002518) Abnormality of the periventricular white matter 24 / 7739
41
 (HPO:0002922) Increased CSF protein 27 / 7739
42
 (HPO:0007305) CNS demyelination 21 / 7739
43
 (HPO:0007307) Rapid neurologic deterioration 3 / 7739
44
 (HPO:0008479) Hypoplastic vertebral bodies 12 / 7739
45
 (HPO:0011096) Peripheral demyelination 28 / 7739
46
 (HPO:0011220) Prominent forehead 137 / 7739
47
 (HPO:0012368) Flat face 106 / 7739
48
 (HPO:0100539) Periorbital edema 8 / 7739
49
 (OMIM) Broad index fingers 1 / 7739
50
 (HPO:0002344) Progressive neurologic deterioration 27 / 7739
51
 (OMIM) Hyperreflexia of the lower limbs 2 / 7739
52
 (OMIM) Decreased activities of multiple sulfatases 1 / 7739
53
 (OMIM) Urinary excretion of mucopolysaccharides 1 / 7739
54
 (OMIM) Accumulation of sulfatides, glycosaminoglycans, sphingolipids, and steroid sulfates in tissues and body fluids 1 / 7739
55
 (HPO:0006568) Increased hepatic glycogen content Frequent [Orphanet] 34 / 7739
56
 (HPO:0100543) Cognitive impairment Very frequent [Orphanet] 230 / 7739
57
 (HPO:0001172) Abnormality of the thumb Frequent [Orphanet] 103 / 7739
58
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
59
 (HPO:0012795) Abnormality of the optic disc Frequent [Orphanet] 187 / 7739
60
 (HPO:0000481) Abnormality of the cornea Frequent [Orphanet] 124 / 7739
61
 (HPO:0001522) Death in infancy Frequent [Orphanet] 275 / 7739
62
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
63
 (HPO:0008155) Mucopolysacchariduria 6 / 7739