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diphthamide deficiency syndrome
Summary
- Synonym
-
- DEDSSH
- craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
- 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).
- Super Class
- amino acid metabolic disorder autosomal recessive disease
External Links
- Disease Ontology
- DOID:0070476
- ORDO
- OMIM
