| Disease ID | Source | Name | Description |
| 613641 | OMIM | Charcot-Marie-Tooth disease, recessive, intermediate type, B (CMTRIB) | A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. The disease is caused by variants affecting the gene represented in this entry. |
| 613916 | OMIM | Deafness, autosomal recessive, 89 (DFNB89) | A form of non-syndromic deafness characterized by bilateral, prelingual, moderate to severe hearing loss affecting all frequencies. The disease is caused by variants affecting the gene represented in this entry. |