Joubert syndrome

Joubert syndrome (JS) is 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.

Hand polydactyly

A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.


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PMID (PMCID)