diphthamide deficiency syndrome

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

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).

Also known as: DEDSSH; craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; developmental delay with short stature, dysmorphic facial features, and sparse hair