Conditions / Syndrome
Joubert syndrome 28
info · Syndrome
A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23.
Signs and symptoms
- Global developmental delay
- Ataxia
- Generalized hypotonia
- Nystagmus
- Oculomotor apraxia
- Molar tooth sign on MRI
- Highly arched eyebrow
- Strabismus
- Delayed speech and language development
- Wide nasal bridge
Also known as: JBTS28