Neuronal ceroid lipofuscinosis 6
| Disorder | |
|---|---|
| OMIM #: | #601780 (Click to access OMIM database) |
| Disorder: | Neuronal ceroid lipofuscinosis 6 |
| Also known as: | CEROID LIPOFUSCINOSIS, NEURONAL, 6, VARIABLE AGE AT ONSET NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, VARIANT vLINCL CEROID LIPOFUSCINOSIS, NEURONAL, 6 (Kufs type) CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE, FORMERLY CLN4A, FORMERLY |
| Clinical | |
| Phenotype: | progressive dementia, motor loss, developmental regression, myoclonus, cerebra atrophy, cerebellar atrophy, seizures, progressive visual failure |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | CLN6 |
| Base Change: | c.358_366delTTCATCATG |
| Amino Acid Change: | |
| Last updated: | 2022-11-11 |
| References |
|---|
| Personal communication; seen at CSC. |
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