Joubert syndrome with intellectual disability: the first documented case from the United Arab Emirates

Abstract Joubert syndrome (JS) is a rare autosomal recessive ciliopathy with a prevalence of approximately 1 in 80,000 to 100,000 live births worldwide. It is characterized by a range of systemic and neurological abnormalities, with the agenesis of the cerebellar vermis being a key feature, often id...

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Principais autores:	Joman Salem Alshereida, Syed Ali Bokhari, Madhusudan Deepak Thalitaya
Format:	Artigo
Jezik:	Inglês
Izdano:	SpringerOpen 2026-01-01
Serija:	Middle East Current Psychiatry
Teme:	Joubert syndrome Intellectual disability Molar tooth sign United arab emirates Ciliopathy Cerebellar cognitive affective syndrome
Online dostop:	https://doi.org/10.1186/s43045-026-00616-3
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