Joubert syndrome
cerebellooculorenal syndrome

Treatment for Joubert syndrome is symptomatic and supportive.

The prognosis for individuals with Joubert syndrome varies.

There is an overlap between 3C syndrome and Joubert syndrome.

Joubert syndrome is one such disease.

Mutations in this gene have been shown to cause a ciliopathy indistinguishable to Joubert syndrome.

Joubert syndrome is a birth defect.

Joubert syndrome is one of the many genetic syndromes associated with syndromic retinitis pigmentosa.

Mutations in the ARL13B gene are associated with the Joubert syndrome.

Mutations in this gene may be associated with Meckel syndrome or Joubert syndrome.

Wnt1 is thought to be behind the genetic disorder called Joubert Syndrome, a disorder that affects the cerebellum.

Joubert syndrome is a rare genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination.

This includes polycystic brains associated with ectodermal dysplasia, frontonasal dysplasia, and Joubert syndrome.

Eden was born at Guy's Hospital, London, in 1988 with a rare genetic disorder - Joubert syndrome - causing cerebral vermis hypoplasia and several other neurological complications.

Other mutations in CEP290 have also been identified in causing Meckel Syndrome and Joubert Syndrome, a few among many syndromes.

Defects in this gene are a cause of Meckel syndrome type 3 (MKS3), nephronophthisis and Joubert syndrome type 6 (JBTS6).

Mutations in this gene have been associated with Joubert syndrome and nephronophthisis, and recently with a frequent form of Leber's Congenital Amaurosis, called LCA10.

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.

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Joubert syndrome (JS) is one of the most commonly diagnosed syndromes associated with the molar tooth sign (MTS), or hypoplasia/displasia of the cerebellar vermis accompanied by brainstem abnormalities.

Mutations in the RPGRIP1L gene are associated with Joubert syndrome and Meckel syndrome which belong to a group of developmental autosomal recessive disorders that are associated with cilium dysfunction.

Patients with Joubert syndrome have been reported to have cardiac defects typical of 3C syndrome; a patient with 3C syndrome had hyperpneic episodes and abnormal eye movements typical of Joubert syndrome.

Currently recognized ciliopathies include Joubert syndrome, primary ciliary dyskinesia (also known as Kartagener Syndrome), Bardet-Biedl syndrome, polycystic kidney disease and polycystic liver disease, nephronophthisis, Alstrom syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.