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M-CMTC syndrome
Macrocephaly - Cutis Marmorata Telangiectasia Congenita syndrome see M-CMTC syndrome
Macrocephaly, Multiple Lipomas and Haemangioma see Bannayan-Riley-Ruvalcaba syndrome
Macular Degeneration see Macular disease
Macular disease
Macular Dystrophy see Macular disease
MAD see Fatty Acid Oxidation disorders
Majewski Osteodysplastic Primordial Dwarfism Type II
Male Balding see Alopecia
Male Pattern Hair Loss see Alopecia
Male Pseudo-hermaphroditism see Androgen Insensitivity syndrome
Malignant Atrophic Papulosis see Degos disease
Malignant Histiocytosis see Histiocytosis
Malignant Hyperpyrexia see Malignant Hyperthermia
Malignant Hyperthermia
Mandibulo Dysostosis see Treacher Collins syndrome
Manic Depression see Bipolar disorder
Mannosidosis see Mucopolysaccharide diseases and Associated diseases
Marcus Gunn Jaw-winking syndrome see Marcus Gunn syndrome
Marcus Gunn Ptosis see Marcus Gunn syndrome
Marcus Gunn syndrome
Marcus Gunn’s Phenomenon see Marcus Gunn syndrome
Marfan syndrome
Marinesco-Garland syndrome see Marinesco-Sjögren Syndrome
Marinesco-Sjögren syndrome
Marinesco-Sjögren-Garland Syndrome see Marinesco-Sjögren Syndrome
Maroteaux Lamy see Mucopolysaccharide diseases and Associated diseases
Mastocytosis
Ménière's disease
MCADD see Medium Chain Acyl-CoA Dehydrogenase Deficiency
McArdle disease see Glycogen Storage diseases
McCune-Albright syndrome
McLeod Neuroacanthocytosis syndrome see Neuroacanthocytosis disorders
McLeod syndrome see Neuroacanthocytosis disorders
MDC1A see Congenital Muscular Dystrophy
MDC1C see Congenital Muscular Dystrophy
ME see Chronic Fatigue syndrome/Myalgic Encephalopathy
MEB see Congenital Muscular Dystrophy
Mediterranean Anaemia see Thalassaemia Major (ß Thalassaemia)
Medium Chain Acyl-CoA Dehydrogenase Deficiency
Medulloblastomas see Brain Tumours
Meige syndrome see Brain Tumours
MELAS see Inherited Metabolic diseases
MELAS see Mitochondrial Cytopathies and related disorders
Melnick-needles Osteodysplasty see Melnick-Needles syndrome
Melnick-needles syndrome
Melorheostosis