Term Name:	diphthamide deficiency syndrome
Synonyms:	craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome, DEDSSH, developmental delay with short stature, dysmorphic facial features, and sparse hair
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).
Ontology:	Human Disease [DOID:0070476]   ( DOID:0070476 )