| Disease ID | Source | Name | Description |
| 613925 | OMIM | Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A) | A neurodegenerative disorder characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, and cognitive decline of variable severity. The brain appears swollen on magnetic resonance imaging with white-matter abnormalities and subcortical cysts, in all stages of the disease. The disease is caused by variants affecting the gene represented in this entry. |
| 613926 | OMIM | Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B (MLC2B) | A neurodegenerative disorder characterized by infantile-onset of macrocephaly and mildly delayed motor development associated with white-matter abnormalities on brain magnetic resonance imaging. The phenotype is milder that MLC2A, with better preserved cerebellar white matter and no subcortical cysts outside the temporal region. On follow-up, patients show normal or almost normal motor function. Some patients have normal intelligence, whereas others have a significant cognitive deficiency. The disease is caused by variants affecting the gene represented in this entry. |