When to suspect Joubert Syndrome 30 related to ARMC9?
Disease causing changes in both copies of ARMC9 is cause of Joubert Syndrome 30. Some of the following features might be present in patient with Joubert syndrome 30:
• Intellectual impairment
• Developmental delay (delayed attainment of development milestones in infancy and early childhood
• Hypotonia (Slight looseness of body and limbs)
• Abnormal eye movements
• Limited ability for self care and activities of daily living
• Ptosis (drooping of eyelids)
• Polydactyly (extra fingers)
• Seizures (epilepsy reported in some patients)
• Broad nasal bridge
• Thin upper lips
• Joint fingers in legs
• MRI imaging of brain shows “Molar Tooth Sign”
ARMC9