Conditions / Syndrome
Joubert syndrome 8
info · Syndrome
A Joubert syndrome that has_material_basis_in mutation in the ARL13B gene on chromosome 3q11.1-q11.2.
Signs and symptoms
- Hyperventilation
- Hypertonia
- Absent speech
- Delayed ability to walk
- Hypotonia
- Global developmental delay
- Hepatomegaly
- Ataxia
- Generalized hypotonia
- Oculomotor apraxia
Also known as: JBTS8