Search Ontology:
Human Disease

diphthamide deficiency syndrome

Term ID
DOID:0070476
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). (2)
References
Ontology
Human Disease   ( DOID:0070476 )
Relationships
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has subtype
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Genes Involved
Zebrafish Models