Version: 8.0.0
Date: Tue Jan 28 2025
diphthamide deficiency syndrome
DOID:0070476
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

diphthamide deficiency syndrome

Definition
An inherited metabolic disorder characterized by global developmental delay, short stature, dysmorphic craniofacial features, and sparse hair that has_material_basis_in deficient diphthamidylation of the eukaryotic translation Elongation Factor 2 protein (gene: EEF2).
Synonyms
  • craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
  • DEDSSH
Cross References
Parent Terms
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