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Human Disease

neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss

Term ID
DOID:0081324
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. https://pubmed.ncbi.nlm.nih.gov/35861243/
References
Ontology
Human Disease   ( DOID:0081324 )
Relationships
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Genes Involved
Zebrafish Models