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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.

code elsewhere

• Oral-facial-digital syndrome type 6  (LD25.00)

synonyms

• Joubert syndrome
• Joubert’s syndrome

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