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 ) |