DO_rare_slim has material basis in autosomal recessive disease early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy disease_ontology UMLS_CUI:C6012705 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. CONDRHN UMLS_CUI:C6012705 DOID:0070806 MIM:621129 MIM:621129 neurodegenerative disease autosomal recessive inheritance