"Inherited in an autosomal recessive pattern, multiple implicated gene mutations have been identified as causative, including in the MKS3, CC2D2A, and RPGRIP1L genes 4."
"C: cerebellar vermis defect (Joubert syndrome)"
"O: oligophrenia"
"A: ataxia"
"C: coloboma"
"H: hepatic fibrosis"
"O: oligophrenia"
"A: ataxia"
"H: hepatic fibrosis"
"Inherited in an autosomal recessive pattern, multiple implicated gene mutations have been identified as causative, including in the MKS3, CC2D2A, and RPGRIP1L genes 4."
Expected headings
"Associations"
"the sonographic features of eye coloboma include a defect in the retina with an obliquely posterior herniation of the vitreus body; retinal detachment"
"absence or hypoplasia of the vermis: the cerebellar hemispheres appose each other due to the absence of the vermis; the superior cerebellar peduncles are prominent because they have a horizontal course and are well delineated by CSF"