Specific Diagnoses (M - N)

M

• Machado-Joseph Disease (MJD)
• Malignant Hyperthermia
• Mandibulofacial Dysostosis—See Treacher Collins Syndrome
• Maple Syrup Urine Disease
• Marden-Walker Syndrome
• Marker X Syndrome—See Fragile X Syndrome
• Marfan Syndrome
• Maroteaux-Lamy Syndrome—See Mucopolysaccharidosis
• Martin-Bell Syndrome—See Fragile X Syndrome
• Mastocytosis
• McCune-Albright Syndrome
• Mediterranean Fever—See Thalassemia
• Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)—See Fatty Oxidation Disorders
• Meniere Syndrome
• Menkes Disease
• Mental Health Issues
• Mental Retardation
• Metabolic Disorders
• Metachromatic Leukodystrophy—See Leukodystrophy
• Microcephaly
• Microphthalmia / Anophthalmia
• Microtia
• Mitochondrial Disorders
• Moebius Syndrome
• Motility Disorders
• Motor Neurone Disease—See Amyotrophic Lateral Sclerosis
• Moyamoya Disease
• Mucolipidosis Type IV
• Mucopolysaccharidosis
• Multiple Cartilaginous Exostoses—See Multiple Hereditary Exostosis (MHE)
• Multiple Endocrine Neoplasia
• Multiple Hereditary Exostosis (MHE)
• Multiple Sclerosis
• Multiple System Atrophy
• Muscular Dystrophy
• Mutism—See Selective Mutism
• Myalgic Encephalomyelitis (ME)—See Chronic Fatigue Syndrome (CFS)
• Myasthenia Gravis
• Myelin Disorders
• Myelodysplastic Syndrome
• Myelofibrosis—See Myeloproliferative Disorders
• Myeloproliferative Disorders
• Myoclonus
• Myositis
• Myotubular Myopathy

N

• Nager & Miller Syndromes
• Nail Patella Syndrome
• Near Drowning
• Nephrogenic Diabetes Insipidus—See Diabetes Insipidus
• Neurofibromatosis
• Neurogenic Diabetes Insipidus—See Diabetes Insipidus
• Neurometabolic Disorders—See Metabolic Disorders
• Nevi, Giant Congenital—See Giant Congenital Nevi
• Niemann-Pick Disease
• Nonverbal Learning Disorders / Disabilities
• Noonan Syndrome
• Norrie Disease