Conditions / Syndrome
Joubert syndrome 25
info · Syndrome
A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1p36.
Signs and symptoms
- Global developmental delay
- Oculomotor apraxia
- Molar tooth sign on MRI
- Ataxia
- Generalized hypotonia
- Cerebellar hypoplasia
- Abnormal electroretinogram
Also known as: JBTS25