Conditions / Syndrome
Joubert syndrome 26
info · Syndrome
A Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has_material_basis_in homozygous mutation in the KIAA0556 gene on chromosome 16p12.
Signs and symptoms
- Cerebellar vermis hypoplasia
- Global developmental delay
- Generalized hypotonia
- Micropenis
- Panhypopituitarism
- Short stature
- Anteverted nares
- Central hypothyroidism
- Nystagmus
- Ptosis
Also known as: JBTS26