Term Name: early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy
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.
Ontology: Human Disease [DOID:0070806]   ( DOID:0070806 )

Relationships
is a type of: autosomal recessive disease neurodegenerative disease