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GTR Home > Tests > Joubert Syndrome Panel

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

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Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa. [from ORDO]

Conditions tested

Target population

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Not provided

Clinical validity

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Clinical utility

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