Term Name:	diphthamide deficiency syndrome 1
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.
Ontology:	Human Disease [DOID:0070477]   ( DOID:0070477 )