Pontocerebellar hypoplasia (Q46019)
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Nonsyndromic pontocerebellar hypoplasias are a rare heterogeneous group of diseases characterised by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LD20.01 |
||
| English | Pontocerebellar hypoplasia |
Nonsyndromic pontocerebellar hypoplasias are a rare heterogeneous group of diseases characterised by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern. |
Statements
CID11:LD20.01
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dki-india-LD20.01
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