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neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive intellectual developmental disorder
External Links
- Disease Ontology
- DOID:0081324
- Mondo Disease Ontology
- OMIM
