diphthamide deficiency syndrome 1 (DOID:0070477)
Alliance: disease page
Synonyms: DEDSSH1; developmental delay with short stature, dysmorphic facial features, and sparse hair 1; DPH1 syndrome; Loucks-Innes syndrome
Alt IDs: OMIM:616901
Definition: A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DPH1 gene on chromosome 17p13.3.