| Metadata | |
|---|---|
| ID | DOID:0070479 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070479 Copy |
| Name | neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties |
| 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. https://pubmed.ncbi.nlm.nih.gov/35482014/ |
| Xrefs | |
| SKOS |
exactMatch MIM:620070 |
| Synonyms |
NEDSFF [EXACT] |
| Parent Relationships |