Conditions / Syndrome
Joubert syndrome 33
info · Syndrome
A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIBF1 gene on chromosome 13q21.
Signs and symptoms
- Global developmental delay
- Ataxia
- Oculomotor apraxia
- Molar tooth sign on MRI
- Apnea
- Delayed CNS myelination
- Hypotonia
- Syndactyly
- Macrocephaly
- Cone/cone-rod dystrophy