Conditions / Syndrome
Joubert syndrome 1
info · Syndrome
A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34.
Signs and symptoms
- Poor head control
- Strabismus
- Ataxia
- Generalized hypotonia
- Molar tooth sign on MRI
- Delayed ability to sit
- Intellectual disability
- Global developmental delay
- Low-set ears
- Oculomotor apraxia
Also known as: CORS1; CPD4; JBTS1; cerebellooculorenal syndrome 1; cerebelloparenchymal disorder IV