The clinical features of Meckel-Gruber syndrome include:
- Polycystic kidneys
- Polydactyly (of the hands and feet)
- Occipital encephalocele
- Oligohydramnios
- Early death (usually in-utero or early infancy)
The clinical features of Joubert syndrome include:
- Oculomotor apraxia
- Breathing abnormalities
- Molar tooth sign on brain MRI
- Psychomotor developmental delay
- Lack of speech
- Lack of ambulation
- Other less consistent features, including:
- Polydactyly
- Syndactyly
- Retinopathy
- Aggressive behavior