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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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