Disease ID | Source | Name | Description |
606438 | OMIM | Huntington disease-like 2 (HDL2) | Huntington disease (HD) is a neurodegenerative disorder resulting primarily from the loss of medium spiny projection neurons in the striatum, especially in the caudate nucleus, and, to a lesser extent, atrophy of mesencephalic and cortical structures. The typical clinical picture of HD combines familial adult onset chorea and subcortical dementia that usually begin during the fourth decade of life. The disease is caused by variants affecting the gene represented in this entry. |