EEF1D

eukaryotic translation elongation factor 1 delta
OMIM: 130592, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber EEF1D in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder MONDO:0700092, EEF1D-related

Amber EEF1D 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
  • Neurodevelopmental disorder MONDO:0700092, EEF1D-related