PanelApp (test)
  1. Genes and Genomic Entities
  2. DPH5

DPH5

diphthamide biosynthesis 5
OMIM: 611075, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green DPH5 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties, MIM# 620070

Green DPH5 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties 620070