Conditions / Syndrome
Joubert syndrome 30
info · Syndrome
A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC9 gene on chromosome 2q37.
Signs and symptoms
- Molar tooth sign on MRI
- Intellectual disability
- Superior cerebellar dysplasia
- Global developmental delay
- Abnormality of eye movement
- Ptosis
- Hypotonia
- Delayed speech and language development
- Gray matter heterotopia
- Ventriculomegaly