Conditions / Syndrome
Joubert syndrome 17
info · Syndrome
A Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has_material_basis_in compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13.
Signs and symptoms
- Global developmental delay
- Molar tooth sign on MRI
- Oculomotor apraxia
- Hyperventilation
- Ataxia
- Postaxial polydactyly
- 3-4 finger cutaneous syndactyly
- Preaxial polydactyly
- Abnormal renal morphology
- Abnormal retinal morphology
Also known as: JBTS17