Klinik und Genetik des Joubert-syndroms

Medicine and Dentistry

• Clinical Feature 100%
• Joubert Syndrome 100%
• Congenital Malformation 20%
• Magnetic Resonance Imaging 20%
• Liver Fibrosis 20%
• Breathing Pattern 20%
• Developmental Delay 20%
• Hypotonia 20%
• Coloboma 20%
• Molar Tooth 20%
• Retina Dystrophy 20%
• Hindbrain 20%
• Nephronophthisis 20%
• X Chromosome Linked Disorder 20%
• Eye Movement Disorder 20%
• Ataxia 20%
• Autosomal Recessive Inheritance 20%
• Ciliopathy 20%

Biochemistry, Genetics and Molecular Biology

• Eye Movement 100%
• Autosomal Recessive Inheritance 100%
• Magnetic Resonance Imaging 100%
• Cilium 100%
• Breathing Pattern 100%