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

• OMIM:620071

Ontology

Human Disease   ( DOID:0081324 )