| Disease ID | Source | Name | Description |
| 616632 | OMIM | Seizures, cortical blindness, and microcephaly syndrome (SCBMS) | A severe autosomal recessive neurodevelopmental disorder characterized by microcephaly, early-onset seizures, severely delayed psychomotor development, short stature, and cortical blindness. The disease is caused by variants affecting the gene represented in this entry. |
| 124900 | OMIM | Deafness, autosomal dominant 1, with or without thrombocytopenia (DFNA1) | 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. Patients may have mild thrombocytopenia and enlarged platelets, although most of DFNA1 affected individuals do not have significant bleeding tendencies. The disease is caused by variants affecting the gene represented in this entry. |