119 results

... Joubert syndrome listed above. 2. Genetic Causes of Joubert Syndrome Establishing the molecular diagnosis of Joubert syndrome (JS) confirms the clinical diagnosis ...

... cause JS (see Tables 1a and 1b in Joubert Syndrome, Diagnosis ); of these, ten genes are known to be associated with JS-Ren (see Table 2 in Joubert Syndrome, Clinical Characteristics ). COACH syndrome ( c erebellar vermis ...

... Teng Y, Liang D, Li Z, Wu L. Diagnosis of Joubert syndrome 10 in a fetus with suspected Dandy-Walker ...

... part of syndromes including Senior-Loken syndrome and Joubert syndrome (see Table 2 ). Early molecular diagnosis can help identify individuals who require systemic investigations. ...

... atypical eye movements, or both. Most children with Joubert syndrome develop truncal ataxia. 7. Renkema et al [2011] Management Evaluations Following Initial Diagnosis To establish the extent of disease and needs ...

... 2014;32:300-6. [ PubMed : 25252769 ] Jury J, Joubert M, Le Vaillant C, Ghesh L, Seguela PE, Bruel AL, Cogne B, Nizon M. Prenatal diagnosis of Myhre syndrome in two cases: further delineation of the cardiac ...

... autosomal recessive ; CHD = congenital heart defect; DiffDx = differential diagnosis; ID = intellectual disability; MOI = mode of inheritance ; RSS = Ritscher-Schinzel syndrome; XL = X-linked 1. See Joubert Syndrome . 2. Joubert syndrome is predominantly inherited in ...

... KAL1 -KS is 75%. 1 Hyposmia & hypogonadotropic hypogonadism Joubert ... neurologic symptoms Klippel-Feil syndrome (KFS) (OMIM PS118100 ) 4 GDF3 ...

... retinopathy of prematurity, dystrophies of retinal photoreceptors (including Joubert syndrome ... Following Initial Diagnosis To establish the extent of disease in an ...