Rare Disease Library

Joubert syndrome with ocular defect

JS-O · Joubert syndrome with retinopathy

Isolated Joubert syndrome

CPD IV · Cerebelloparenchymal disorder IV

Joubert syndrome and related disorders

JSRD

Joubert syndrome with hepatic defect

COACH syndrome · Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis

Joubert syndrome with Jeune asphyxiating thoracic dystrophy

JBTS with JATD · Joubert syndrome with JATD

Joubert syndrome with oculorenal defect

Arima syndrome · CORS

Joubert syndrome with renal defect

JS-R

Leigh syndrome with cardiomyopathy

Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency · Cardiomyopathy with myopathy due to COX deficiency

OBSOLETE: Cleft lip-retinopathy syndrome

OBSOLETE: Cleft lip-progressive retinopathy syndrome · OBSOLETE: Ausems-Wittebol Post-Hennekam syndrome

Orofaciodigital syndrome type 6

Joubert syndrome with oral-facial-digital syndrome · OFD6