diphthamide deficiency syndrome 2

Term ID

DOID:0070478

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. https://pubmed.ncbi.nlm.nih.gov/32576952/

References

• MIM:620062

Ontology

Human Disease   ( DOID:0070478 )