DPH1

diphthamide biosynthesis 1
OMIM: 603527
PanelMode of inheritanceDetails
2 panels
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Developmental delay with short stature, dysmorphic facial features, and sparse hair, OMIM:616901
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Developmental delay with short stature, dysmorphic facial features, and sparse hair, OMIM:616901