neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss Disease Ontology Browser

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neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss (DOID:0081324)
Alliance: disease page
Synonyms: NEDGTH
Alt IDs: OMIM:620071
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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