Inosine-5'-monophosphate dehydrogenase deficiency

(RP10)

Synonym(s)
- Retinitis pigmentosa type 10,
- Leber congenital amaurosis type 11
Type

Disease
External link(s)
- IEMbase
Gene
- IMPDH1 / Inosine Monophosphate Dehydrogenase 1
  7q32.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Inosine monophosphate dehydrogenase 1
Disease group(s)
- 16.2 Disorders of purine metabolism