1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0110722 | neuronal ceroid lipofuscinosis 7 | A neuronal ceroid lipofuscinosis that is characterized by late-infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and has_material_basis_in homozygous or compound heterozygous mutation in the MFSD8 gene on chromosome 4q28. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:655 | inherited metabolic disorder | A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality. |
