diphthamide deficiency syndrome (DOID:0070476)
Alliance: disease page
Synonyms: craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; DEDSSH; developmental delay with short stature, dysmorphic facial features, and sparse hair
Alt IDs: OMIM:PS616901, ORDO:459061
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).