Neurodevelopmental Disorder With Spasticity And Poor Growth
Disease ID: disease_node_16445
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| Dbxref | MIM:618076 |
|---|---|
| Subclassof | DOID_0060308 |
| Data Source | DOID |
| Synonyms | NEDSG |
| Doid Label | neurodevelopmental disorder with spasticity and poor growth |
| Doid Description | An autosomal recessive intellectual developmental disorder characterized by axial hypotonia, delayed psychomotor development, poor feeding, and failure to thrive with onset in early infancy that has_material_basis_in homozygous mutation in the UFC1 gene on chromosome 1q23. |
| Disease Node Id | disease_node_16445 |
| Doid Id | DOID_0070421 |
| Label | Neurodevelopmental Disorder With Spasticity And Poor Growth |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Intellectual Developmental Disorder(ID:disease_node_16368) (Disease)