1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0090003 | agenesis of the corpus callosum with peripheral neuropathy | A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:1289 | neurodegenerative disease | A central nervous system disease that results in the progressive deterioration of function or structure of neurons. |
