Neurodevelopmental Disorder With Poor Growth, Spastic Tetraplegia, And Hearing Loss
Disease ID: disease_node_16370
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| Dbxref | MIM:620071 |
|---|---|
| Subclassof | DOID_0060308 |
| Data Source | DOID |
| Synonyms | NEDGTH |
| Doid Label | neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss |
| Doid Description | An autosomal recessive intellectual developmental disorder that is characterized by poor growth, spastic tetraplegia, and hearing loss and that has_material_basis_in homozygous mutation in the PSMC1 gene on chromosome 14q32. |
| Disease Node Id | disease_node_16370 |
| Doid Id | DOID_0081324 |
| Label | Neurodevelopmental Disorder With Poor Growth, Spastic Tetraplegia, And Hearing Loss |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Intellectual Developmental Disorder(ID:disease_node_16368) (Disease)