XYLOSIDASE DEFICIENCY

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 15
OrphanetNr:
OMIM Id: 278900
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly 832 / 7739
2
 (HPO:0000618) Blindness 124 / 7739
3
 (HPO:0000365) Hearing impairment 539 / 7739
4
 (HPO:0001266) Choreoathetosis 57 / 7739
5
 (HPO:0001250) Seizures 1245 / 7739
6
 (HPO:0002521) Hypsarrhythmia 43 / 7739
7
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
8
 (HPO:0001324) Muscle weakness 859 / 7739
9
 (HPO:0010547) Muscle flaccidity 466 / 7739
10
 (HPO:0001252) Muscular hypotonia 990 / 7739
11
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
12
 (HPO:0002119) Ventriculomegaly 253 / 7739
13
 (OMIM) Dilated ventricles by air encephalography 1 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
 (OMIM) Very low beta-xylosidase in short-term lymphocyte culture 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: