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diphthamide deficiency syndrome 2
Summary
- Synonym
-
- DEDSSH2
- developmental delay with short stature, dysmorphic facial features, and sparse hair 2
- Definition
- A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the DPH2 gene on chromosome 1p34.1.
- Super Class
- diphthamide deficiency syndrome
External Links
- Disease Ontology
- DOID:0070478
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9BQC3 | 2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 |
