Term Name: | neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss |
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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 ) |