Pontocerebellar hypoplasia (Q46019): Difference between revisions
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Hipoplasias pontocerebelares não sindrômicas são um grupo heterogêneo raro de doenças caracterizadas por hipoplasia e atrofia e/ou neurodegeneração precoce de cerebelo e ponte. Oito subtipos denominados tipo 1-8 foram descritos, geralmente herdados em um padrão autossômico recessivo. | |||
| description / en | description / en | ||
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. | |||
Revision as of 14:19, 13 August 2026
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 |
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| 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. |
