diphthamide deficiency syndrome 1

Term ID

DOID:0070477

Synonyms

• DEDSSH1
• developmental delay with short stature, dysmorphic facial features, and sparse hair 1
• DPH1 syndrome
• Loucks-Innes syndrome

Definition

A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DPH1 gene on chromosome 17p13.3. https://pubmed.ncbi.nlm.nih.gov/30877278/

References

• MIM:616901

Ontology

Human Disease   ( DOID:0070477 )