Term Name:	diphthamide deficiency syndrome 2
Synonyms:	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.
Ontology:	Human Disease [DOID:0070478]   ( DOID:0070478 )