1. Genes and Genomic Entities
  2. LDHD

LDHD

lactate dehydrogenase D
OMIM: 607490, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber LDHD in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • D-lactic aciduria with susceptibility to gout, OMIM:245450
    • lactic aciduria due to D-lactic acid, MONDO:0009505