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• Monosomy 1p21.3

• MTHFS deficiency

• Mucolipidoses

• Mucopolysaccharidoses

• Multiminicore Disease

• Multiple subpial transection

• Muscle-Eye-Brain Disease

• Myoglobinuria

• Myotonia, Muscle Conditions

• Myotonic Dystrophy

• Naito-Oyanagi disease

• narcolepsy

• Nemaline Myopathy

• Neonatal Seizures

• Nerve Conduction Velocity

• Nesprinopathies

• Neural tube development

• Neurodegeneration with brain iron accumulation (NBIA)

• Neuroembryology

• Neurofibromatosis Type 1