Table 2 Further clinical studies of affected individuals

From: A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5’-UTR loss-of-function CEP83 variant

Patient

MRI: Molar tooth sign

MRI: Ventriculomegaly

MRI: Intra-cerebellar cyst

MRI: Cleft high-arched soft palate

Renal ultrasound

Karyotype

Chromosomal microarray (CMA)

Creatinine (mg/dL)

Polydipsia/Polyuria

Iron resistant anemia

Ophthalmologic assessment

F1-V15

+

+

+

+

Unremarkable

Not done

arr(1-22)x2,(XY)x1

0.25 (age 10)

-

-

Normal eye movement

F2-II-1

+

+

+

-

Unremarkable

46,XY

arr(1-22)x2,(XY)x1

0.36 (age 1 y)

-

-

N/A

F1-V3

+

+

+

+

Unremarkable

46,XY

arr(1-22)x2,(XY)x1

0.45 (age 15 y)

-

-

N/A

F1-V11

+

+

+

+

Not done

Not done

arr(1-22)x2,(X)x2

0.28 (age 4 y)

-

-

Nystagmus, strabismus

F1-V8

+

+

+

+

Not done

Not done

arr(1-22)x2,(XY)x1

0.2 (age 2 y)

-

-

Normal eye movement

  1. F1 Family 1, F2 Family 2.