Conditions / Syndrome
Joubert syndrome 3
info · Syndrome
A Joubert syndrome that has_material_basis_in homozygous mutation in the AHI1 gene on chromosome 6q23.3.
Signs and symptoms
- Hypotonia
- Ataxia
- Oculomotor apraxia
- Intellectual disability
- Cerebellar vermis hypoplasia
- Thin corpus callosum
- Frontal polymicrogyria
- Epicanthus
- Stage 5 chronic kidney disease
- Anteverted nares
Also known as: JBTS3