IMPDH2-related disorder
MONDO:1060248Mondo
Findings
No curated finding names IMPDH2-related disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An ultra-rare hereditary neurological disorder caused by a variation in the IMPDH2 gene, which encodes a key enzyme involved in guanine nucleotide biosynthesis and purine metabolism. The phenotype spans a spectrum from neurodevelopmental delay, intellectual disability, dystonia, tremor, and other movement abnormalities, with variable expressivity and age of onset.
Definition from the Mondo Disease Ontology (MONDO:1060248), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of