| Metadata | |
|---|---|
| ID | DOID:0070478 |
| Name | diphthamide deficiency syndrome 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/ |
| Xrefs | |
| Synonyms |
DEDSSH2 [EXACT] developmental delay with short stature, dysmorphic facial features, and sparse hair 2 [EXACT] |
| Parent Relationships |