Conditions / Syndrome
Joubert syndrome 21
info · Syndrome
A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CSPP1 gene on chromosome 8q13.
Signs and symptoms
- Global developmental delay
- Ptosis
- Strabismus
- Hypoplasia of the brainstem
- Hypotonia
- Ataxia
- Intellectual disability
- Hypoplasia of the corpus callosum
- Dyspnea
- Posterior fossa cyst
Also known as: JBTS21