LESCH-NYHAN PHENOTYPE WITH NORMAL HGPRT

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr:
OMIM Id: 308950
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0001257) Spasticity 251 / 7739
2
 (HPO:0001266) Choreoathetosis 57 / 7739
3
 (HPO:0001249) Intellectual disability 1089 / 7739
4
 (HPO:0000742) Self-mutilation 27 / 7739
5
 (HPO:0002149) Hyperuricemia 37 / 7739
6
 (HPO:0001417) X-linked inheritance 173 / 7739
7
 (OMIM) HGPRT and purine salvage normal 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: