diphthamide deficiency syndrome 2 (DOID:0070478)
Alliance: disease page
Synonyms: DEDSSH2; developmental delay with short stature, dysmorphic facial features, and sparse hair 2
Alt IDs: OMIM:620062
Definition: A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the DPH2 gene on chromosome 1p34.1.