A rare, autosomal recessive congenital cerebellar ataxia characterized 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.

Synonyms: Pure Joubert syndrome Joubert-Boltshauser syndrome Joubert syndrome type A Classic Joubert syndrome Cerebelloparenchymal disorder IV CPD IV

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Term information

database cross reference
hasDbXref

OMIM:618161

OMIM:617120

OMIM:612291

OMIM:616490

OMIM:617761

OMIM:616781

OMIM:614173

OMIM:617121

OMIM:616654

OMIM:617622

OMIM:616784

OMIM:614464

OMIM:614970

ICD-10:Q04.3

OMIM:615636

OMIM:614424

OMIM:610688

OMIM:213300

OMIM:614615

notation

ORPHA:475