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Features include: Choreoathetosis, Spasticity, Intellectual disability, and Self-mutilation and 1 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 2 | Spasticity, Intellectual disability |
No clinical trials have been registered for Lesch-Nyhan phenotype with normal HGPRT.
2 publications have been identified in PubMed for Lesch-Nyhan phenotype with normal HGPRT. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).
Zheng H (2025). [PMID: 40092560](https://pubmed.ncbi.nlm.nih.gov/40092560/). *Front Genet*. [Case Report / Case Series]
Javed S (2025). [PMID: 41398526](https://pubmed.ncbi.nlm.nih.gov/41398526/). *Cell Mol Neurobiol*. [Basic Science / Preclinical]
Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 2:53 PM UTC
Online Mendelian Inheritance in Man
Common questions about Lesch-Nyhan phenotype with normal HGPRT