WormBase Tree Display for DO_term: DOID:0110723
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| DOID:0110723 | Name | neuronal ceroid lipofuscinosis 8 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A neuronal ceroid lipofuscinosis that is characterized by a late infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in homozygous or compound heterozygous mutation in the CLN8 gene on chromosome 8p23. | ||||
| Synonym | Exact | CLN8 | |||
| Parent | Is_a | DOID:14503 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 600143 |
