| Metadata | |
|---|---|
| ID | DOID:0070476 |
| Name | diphthamide deficiency syndrome |
| 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). https://pubmed.ncbi.nlm.nih.gov/32576952/, https://pubmed.ncbi.nlm.nih.gov/35482014/ |
| Xrefs | |
| SKOS |
exactMatch MIM:PS616901 exactMatch ORDO:459061 |
| Subsets |
DO_rare_slim |
| Synonyms |
craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome [EXACT] DEDSSH [EXACT] developmental delay with short stature, dysmorphic facial features, and sparse hair [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has phenotype some Sparse hair has phenotype some Short stature has phenotype some Global developmental delay has material basis in some autosomal recessive inheritance |