FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss ID (Ontology) DOID:0081324 (Human Disease)
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.
Also Known As "NEDGTH"
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 Alleles Genes
 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss       3      2
 ameliorates | neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss       1       --
 for disease ribbon | neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss       --       1
 model of | neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss       2      1
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autosomal recessive disease__
intellectual disability______|
                             autosomal recessive intellectual developmental disorder
                              |__neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss  5 rec.
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Is a autosomal recessive intellectual developmental disorder
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Synonyms
  • "NEDGTH" EXACT OMO:0003012
Secondary IDs
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MIM:620071