pontocerebellar hypoplasia type 8 (Q18966161)
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gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum.
- PCH8
- PONTOCEREBELLAR HYPOPLASIA, TYPE 8; PCH8
- PONTOCEREBELLAR HYPOPLASIA, TYPE 8
- Pontocerebellar hypoplasia due to CHMP1A mutation
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | pontocerebellar hypoplasia type 8 |
gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum. |
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