Early-onset neurodegeneration with retinitis pigmentosa
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| EARLY-CHILDHOOD-ONSET NEURODEGENERATION WITH RETINITIS PIGMENTOSA, SENSORINEURAL HEARING LOSS, AND DEMYELINATING PERIPHERAL NEUROPATHY | KLC4 | Unknown | — | ClinVar | |
| NEURODEGENERATION, EARLY-CHILDHOOD-ONSET, WITH RETINITIS PIGMENTOSA, SENSORINEURAL HEARING LOSS, AND DEMYELINATING PERIPHERAL NEUROPATHY | KLC4 | Unknown | — | HPO |