Conditions / Syndrome
Joubert syndrome 23
info · Syndrome
A Joubert syndrome characterized by delayed development, abnormal eye movements, and abnormal breathing pattern, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA0586 gene on chromosome 14q23.
Signs and symptoms
- Abnormality of eye movement
- Global developmental delay
- Tachypnea
- Apnea
- Polydactyly
- Coloboma
- Dysplastic corpus callosum
- Sensorineural hearing impairment
- Cerebellar dysplasia
Also known as: JBTS23