Conditions / Syndrome
Joubert syndrome 7
info · Syndrome
A Joubert syndrome that has_material_basis_in mutation in the RPGRIP1L gene on chromosome 16q12.2.
Signs and symptoms
- Ataxia
- Stage 5 chronic kidney disease
- Oculomotor apraxia
- Intellectual disability
- Nephronophthisis
- Molar tooth sign on MRI
- Hypoplasia of the brainstem
- Abnormal corpus callosum morphology
- Generalized hypotonia
- Encephalocele
Also known as: JBTS7