| Term Name: | neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties |
|---|---|
| Synonyms: | NEDSFF |
| Definition: | An diphthamide deficiency syndrome characterized by distinct craniofacial features, multisystem dysfunction, profound neurodevelopmental delays, and neonatal death that has_material_basis_in homozygous or compound heterozygous mutation in the DPH5 gene on chromosome 1p21.2. |
| Ontology: | Human Disease [DOID:0070479] ( DOID:0070479 ) |