| Disease ID | Source | Name | Description |
| 220500 | OMIM | Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome (DOORS) | A syndrome characterized by sensorineural deafness, mental retardation, hypoplastic or absent nails, small or absent distal phalanges of hands and feet. Additional features include coarse facies, a large nose with wide nasal bridge, bulbous tip and anteverted nares, a long prominent philtrum and downturned corners of the mouth. Progressive neurological manifestations include seizures from infancy, optic atrophy, and peripheral polyneuropathy. The disease is caused by variants affecting the gene represented in this entry. |
| 614617 | OMIM | Deafness, autosomal recessive, 86 (DFNB86) | A form of non-syndromic deafness characterized by prelingual onset of profound sensorineural hearing loss affecting all frequencies. The disease is caused by variants affecting the gene represented in this entry. |
| 615338 | OMIM | Developmental and epileptic encephalopathy 16 (DEE16) | A severe autosomal recessive neurologic disorder characterized by onset of seizures in the first weeks or months of life. Seizures can be of various types, are unresponsive to medication, last for long periods of time, and occur frequently. Affected infants show psychomotor regression or lack of psychomotor development, as well as other neurologic features such as extrapyramidal signs and hypotonia. Most die in childhood. The disease is caused by variants affecting the gene represented in this entry. |
| 605021 | OMIM | Familial infantile myoclonic epilepsy (FIME) | A subtype of idiopathic epilepsy starting in early infancy and manifesting as myoclonic seizures, febrile convulsions, and tonic-clonic seizures. The disease is caused by variants affecting the gene represented in this entry. |
| 616044 | OMIM | Deafness, autosomal dominant, 65 (DFNA65) | A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA65 is characterized by post-lingual onset of slowly progressive hearing loss in the third decade. Initially affecting the high frequencies, the hearing loss eventually affects all frequencies and results in severe to profound deafness in the seventh decade. Vestibular function is normal. The disease is caused by variants affecting the gene represented in this entry. |
| 608105 | OMIM | Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp (EPRPDC) | An autosomal recessive neurologic disorder characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood. Clinical features include involuntary movements and difficulties with fine motor skills of the hand. The disease is caused by variants affecting the gene represented in this entry. |