Conditions / Syndrome
Joubert syndrome 16
info · Syndrome
A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the TMEM138 gene on chromosome 11q.
Signs and symptoms
- Molar tooth sign on MRI
- Oculomotor apraxia
- Coloboma
- Retinal dystrophy
- Renal cyst
- Nephronophthisis
- Hypertelorism
- Dandy-Walker malformation
- Encephalocele
- Polydactyly
Also known as: JBTS16