early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy

Term ID

DOID:0070806

Synonyms

• CONDRHN

Definition

A neurodegenerative disease characterized by onset in early childhood of progressive walking difficulties, progressive visual impairment and blindness due to retinitis pigmentosa, sensorineural hearing loss, demyelinating peripheral neuropathy, and severely impaired intellectual development with poor or absent speech that has_material_basis_in homozygous mutation in the KLC4 gene on chromosome 6p21. https://pubmed.ncbi.nlm.nih.gov/26423925/

References

• MIM:621129
• UMLS_CUI:C6012705

Ontology

Human Disease   ( DOID:0070806 )