Conditions / Syndrome
Joubert syndrome 6
info · Syndrome
A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.
Signs and symptoms
- Cerebellar vermis hypoplasia
- Global developmental delay
- Hypotonia
- Intellectual disability
- Stage 5 chronic kidney disease
- Nephronophthisis
- Elongated superior cerebellar peduncle
- Enlarged fossa interpeduncularis
- Blindness
- Molar tooth sign on MRI
Also known as: JBTS6