Conditions / Syndrome
Joubert syndrome 20
info · Syndrome
A Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23.
Signs and symptoms
- Absent speech
- Inability to walk
- Global developmental delay
- Respiratory insufficiency
- Oculomotor apraxia
- Molar tooth sign on MRI
- 4-5 toe syndactyly
- Postaxial polydactyly
- Renal cyst
- Retinopathy
Also known as: JBTS20