Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy

Medicine and Dentistry

• Syndrome 100%
• Neuropathy 100%
• Megacolon 100%
• Multifocal Motor Neuropathy 40%
• Diagnosis 20%
• Family 20%
• Clinical Feature 20%
• Developmental Delay 20%
• Microtubule 20%
• Girl 20%
• Neuromuscular Disease 20%
• Congenital Heart Defect 20%
• Dysmorphic Feature 20%
• Hypotonia 20%
• Microgyria 20%
• Iris Coloboma 20%
• Nervous System Malformation 20%
• Hirschsprung's Disease 20%

Biochemistry, Genetics and Molecular Biology

• Binding Protein 100%
• Genetics 50%
• Spectrum 50%
• Exon 50%
• Kinesin 50%
• Gene 50%

Neuroscience

• Peripheral Neuropathy 100%
• Cardiovascular System 33%
• Central Nervous System 33%
• Microtubules 33%
• Neuromuscular Disorder 33%
• Iris 33%
• Hypotonia 33%
• Ptosis 33%