- ... sign, including those with these additional signs and symptoms, are usually considered Joubert syndrome. Frequency Joubert syndrome is estimated to affect between ...
- ... sign, including those with these additional signs and symptoms, are usually considered Joubert syndrome.</html:p></html></text></text-list><inheritance-pattern- ...
- ... how these changes result in the signs and symptoms of Joubert syndrome. More About This Health Condition Primary ciliary dyskinesia ... how these changes result in the signs and symptoms of X-linked intellectual disability. Other Names ... OFD1 JOUBERT SYNDROME 10; JBTS10 Gene and Variant Databases NCBI ...
- ... 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 ...
- ... Disorder Gene(s) MOI Clinical Features of Differential Diagnosis Disorder Overlapping w/RSS Distinguishing from RSS Joubert Syndrome >30 genes 1 AR (XL, digenic ) 2 ID ...
- ... NPHP1 gene mutations develop the additional signs and symptoms of Senior-Løken syndrome or Joubert syndrome. Other Names for This Gene JBTS4 juvenile ...
- ... Tassabehji et al 2008 , Mohamed et al 2013 ]. Joubert ... accompanying neurologic symptoms, including CMM in some cases [ Ferland et al ...
- ... manifestations that constitute a recognizable syndrome (e.g., Joubert syndrome, Bardet-Biedl syndrome, Jeune syndrome and ... the diagnosis of the NPH phenotype ...
- ... retinopathy of prematurity, dystrophies of retinal photoreceptors (including Joubert syndrome ... Following Initial Diagnosis To establish the extent of disease in an ...
- ... such as Meckel-Gruber syndrome, Bardet-Biedl syndrome , Joubert syndrome , and Jeune ... Following Initial Diagnosis To establish the extent of disease and needs ...
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