Diseases · Entity Annotation Prototype (beta)

3articles mentioning diseases

3disease mentions

1distinct diseases extracted

0%of mentions human-reviewed

Active filtersEntity: Joubert syndrome ×

Joubert syndrome

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Joubert syndrome3

Articles mentioning Joubert syndrome

3 articles · page 1 of 1

Delayed recognition of Joubert syndrome in a child initially diagnosed with autism spectrum disorder without intellectual impairment

bmjcr · abstract · 2026-07-08 · 1 matching annotations

92.6%

Joubert syndrome autism spectrum disorder

…Joubert syndrome (JS) is a rare ciliopathy characterised by the molar tooth sign…

Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement

jmedgenet · abstract · 2025-11-21 · 1 matching annotations

93.9%

Joubert syndrome RNU4ATAC-related skeletal disorders JS

…esembling the ‘molar tooth sign’ (MTS). This is the hallmark of Joubert syndrome (JS), a neurodevelopmental ciliopathy with multiorgan involveme…

Challenges in postoperative management of a patient with primary ciliary dyskinesia and Joubert syndrome and related disorders with congenital heart disease

bmjcr · abstract · 2025-10-23 · 1 matching annotations

93.2%

congenital heart disease Joubert syndrome primary ciliary dyskinesia JSRD hypotonia heterotaxy pulmonary infections polydactyly chronic heart failure

…ion with a birth weight of 3396 g. He presented with hypotonia, congenital heart disease, heterotaxy and polydactyly. Based on physical examination and …