| Disease ID | Source | Name | Description |
| 615651 | OMIM | Leukoencephalopathy with ataxia (LKPAT) | An autosomal recessive neurologic disorder with a characteristic pattern of white matter abnormalities on brain MRI. Affected individuals have prominent signal abnormalities and decreased apparent diffusion coefficient values in the posterior limbs of the internal capsules, middle cerebral peduncles, pyramidal tracts in the pons, and middle cerebellar peduncles, suggesting myelin microvacuolation. Clinical features include ataxia and unstable gait. More variable abnormalities may include visual field defects, headaches, and learning disabilities. The disease is caused by variants affecting the gene represented in this entry. |
| 605635 | OMIM | Hyperaldosteronism, familial, 2 (HALD2) | An autosomal dominant disorder characterized by elevated plasma aldosterone level and hypertension of varying severity even within members of the same family. Hypokalemia is observed in some patients. In HALD2, hypertension does not improve with glucocorticoid treatment. The disease is caused by variants affecting the gene represented in this entry. |
| 607628 | OMIM | Epilepsy, idiopathic generalized 11 (EIG11) | A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Disease susceptibility is associated with variants affecting the gene represented in this entry. |
| 607628 | OMIM | Epilepsy, idiopathic generalized 11 (EIG11) | A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Disease susceptibility may be associated with variants affecting the gene represented in this entry. |
| 607628 | OMIM | Epilepsy, idiopathic generalized 11 (EIG11) | A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Disease susceptibility is associated with variants affecting the gene represented in this entry. |