LD20.01

ICD-11 MMS 2026-01

Pontocerebellar hypoplasia

Description

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.

Index terms

  • Pontocerebellar hypoplasia
  • Nonsyndromic pontocerebellar hypoplasia
  • Pontocerebellar hypoplasia type 1
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  • Pontocerebellar hypoplasia type 2
  • Pontocerebellar hypoplasia type 3
  • Pontocerebellar hypoplasia type 4
  • Pontocerebellar hypoplasia type 5
  • Pontocerebellar hypoplasia type 6

Exclusions from above levels

  • LD2F.13 – Meckel syndrome
  • http://id.who.int/icd/entity/733825440 – Inborn errors of metabolism

Sibling codes

  • LD20.00 – Joubert syndrome
  • LD20.0Y – Other specified syndromes with cerebellar anomalies as a major feature
  • LD20.0Z – Syndromes with cerebellar anomalies as a major feature, unspecified

Foundation entity

Pontocerebellar hypoplasia – http://id.who.int/icd/entity/1565266279

Part of: LD20.0: Syndromes with cerebellar anomalies as a major feature › LD20: Syndromes with central nervous system anomalies as a major feature › 20: Developmental anomalies