LD20.01 Pontocerebellar hypoplasia
International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01
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.
synonyms
- Pontocerebellar hypoplasia
- Nonsyndromic pontocerebellar hypoplasia
- Pontocerebellar hypoplasia type 1
- Pontocerebellar hypoplasia type 2
- Pontocerebellar hypoplasia type 3
- Pontocerebellar hypoplasia type 4
- Pontocerebellar hypoplasia type 5
- Pontocerebellar hypoplasia type 6
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