| Term Name: | neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss |
|---|---|
| Synonyms: | NEDGTH |
| Definition: | 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. |
| Ontology: | Human Disease [DOID:0081324] ( DOID:0081324 ) |