ICD-11 MMS

20 Developmental anomalies

Multiple developmental anomalies or syndromes  (LD20-LD2Z)

LD20 Syndromes with central nervous system anomalies as a major feature

LD20.0 Syndromes with cerebellar anomalies as a major feature

LD20.00 Joubert syndrome

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01


Joubert syndrome is a genetic midbrain-hindbrain malformation syndrome characterised by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.

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