Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Disease ID: disease_node_20532
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| Dbxref | MIM:620070 |
|---|---|
| Subclassof | DOID_0070476 |
| Data Source | DOID |
| Synonyms | NEDSFF |
| Doid Label | neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties |
| Doid Description | 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. |
| Disease Node Id | disease_node_20532 |
| Doid Id | DOID_0070479 |
| Label | Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
- Outgoing r'ship
SUBCLASS_OFto/from Diphthamide Deficiency Syndrome(ID:disease_node_20531) (Disease)