The neurological features of JSRD include hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and neonatal breathing dysregulation. [ncbi.nlm.nih.gov]

delay and multiple congenital anomalies. [centogene.com]

Discussion The incidence of JS has been estimated to be between 1/80,000 and 1/100,000 live births. 8 The cardinal neurological features of JS are hypotonia that evolves into ataxia and developmental delay. [dovepress.com]

A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology. 1969;19:813–825. 2. Boltshauser E, Isler W. [dovepress.com]

Historical note and terminology In 1969, Marie Joubert and colleagues reported a previously undescribed syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation associated with agenesis of the cerebellar vermis ( Joubert et al 1999 [medlink.com]

The most common features of Joubert syndrome are lack of muscle control (ataxia), abnormal breathing patterns (hyperpnea), sleep apnea, abnormal eye and tongue movements and low muscle tone. [rarediseases.org]

The typical respiratory abnormalities are represented by short alternate episodes of apnea and hyperpnea or episodic hyperpnea alone, which tend to occur shortly after birth, intensify with emotional stress and progressively improve with age, usually [ojrd.biomedcentral.com]

Additional features often identified in individuals with Joubert syndrome include 1 : Abnormal breathing (tachypnea and/or apnea) Abnormal eye movements, typically oculomotor apraxia Retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele [centogene.com]

These problems often emerge in temperament, hyperactivity, and aggressiveness. Careful examination of the face, especially in infancy, shows a characteristic appearance. [rehabpub.com]

In some cases, tremor has been reported [ 20 ]. [ojrd.biomedcentral.com]