HYPERURICEMIA, INFANTILE, WITH ABNORMAL BEHAVIOR AND NORMAL HYPOXANTHINEGUANINE PHOSPHORIBOSYLTRANSFERASE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 10
OrphanetNr:
OMIM Id: 240000
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000164) Abnormality of the teeth 291 / 7739
2
 (HPO:0000522) Alacrima 14 / 7739
3
 (HPO:0001344) Absent speech 57 / 7739
4
 (HPO:0001249) Intellectual disability 1089 / 7739
5
 (HPO:0000717) Autism 108 / 7739
6
 (HPO:0002149) Hyperuricemia 37 / 7739
7
 (OMIM) Dysplastic teeth 3 / 7739
8
 (OMIM) Failure to cry 1 / 7739
9
 (OMIM) Adenine phosphoribosyltransferase increased 1 / 7739
10
 (OMIM) HGPT normal 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: