Conditions / Syndrome
Joubert syndrome 4
info · Syndrome
A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13.
Signs and symptoms
- Cerebellar vermis hypoplasia
- Delayed gross motor development
- Stage 5 chronic kidney disease
- Hypometric saccades
- Renal insufficiency
- Hypotonia
- Global developmental delay
- Ataxia
- Generalized hypotonia
- Postural instability
Also known as: JBTS4