Search Ontology:
Human Disease
neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss
- Term ID
- DOID:0081324
- Synonyms
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- 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 )
- is a type of
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Zebrafish Models