Conditions / Syndrome
Joubert syndrome 22
info · Syndrome
A Joubert syndrome that has_material_basis_in homozygous mutation in the PDE6D gene on chromosome 2q37.
Signs and symptoms
- Hypoplasia of the corpus callosum
- Postaxial hand polydactyly
- Generalized hypotonia
- Oculomotor apraxia
- Temporal cortical atrophy
- Molar tooth sign on MRI
- Postaxial foot polydactyly
- Agenesis of cerebellar vermis
- Microphthalmia
- Undetectable electroretinogram
Also known as: JBTS22