DO_rare_slim has material basis in has phenotype autosomal recessive disease diphthamide deficiency syndrome ORDO:459061 disease_ontology ORDO:459061 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). DOID:0070476 MIM:PS616901 DEDSSH MIM:PS616901 craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome developmental delay with short stature, dysmorphic facial features, and sparse hair amino acid metabolic disorder autosomal recessive inheritance Global developmental delay Short stature Sparse hair