Joubert syndrome 24

info · Syndrome

A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has_material_basis_in homozygous mutation in the TCTN2 gene on chromosome 12q24.

Signs and symptoms

Cerebellar hypoplasia
Gait disturbance
Hypermetropia
Postaxial hand polydactyly
Global developmental delay
Hypotonia
Ataxia
Nystagmus
Pachygyria
Postaxial foot polydactyly

Also known as: JBTS24