| Disease ID | Source | Name | Description |
| 236600 | OMIM | Hydrocephalus, congenital, 1 (HYC1) | A form of congenital hydrocephalus, a disease characterized by onset in utero of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. Affected individuals may have neurologic impairment. HYC1 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. |
| 616053 | OMIM | Spinocerebellar ataxia 40 (SCA40) | A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA40 is an autosomal dominant, slowly progressive form. Brain MRI shows pontocerebellar atrophy along with a global reduction in brain volume. The disease is caused by variants affecting the gene represented in this entry. |