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

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early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy (DOID:0070806)
Alliance: disease page
Synonyms: CONDRHN
Alt IDs: OMIM:621129, UMLS_CUI:C6012705
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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