PanelApp (stage)
  1. Genes and Genomic Entities
  2. DPH2

DPH2

DPH2 homolog
OMIM: 603456, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber DPH2 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Developmental delay with short stature, dysmorphic facial features, and sparse hair 2, MIM# 620062
  • Diphthamide-deficiency syndrome

Amber DPH2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Developmental delay with short stature, dysmorphic facial features, and sparse hair 2, MIM# 620062
  • Diphthamide-deficiency syndrome