GeneReviews
0-9 | A-B | C-D | E-F | G-H | I-J | K-L | M-N | O-P | Q-R | S-T | U-V | W-X | Y-Z
- Majeed Syndrome
- Malignant Hyperthermia Susceptibility
- Manitoba Oculotrichoanal Syndrome
- Maple Syrup Urine Disease
- MAPT-Related Disorders
- Marfan Syndrome
- Marinesco-Sjogren Syndrome
- McKusick-Kaufman Syndrome
- McLeod Neuroacanthocytosis Syndrome
- MCT8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency
- MECP2 Duplication Syndrome
- MECP2-Related Disorders
- MED12-Related Disorders
- Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency
- Megalencephalic Leukoencephalopathy with Subcortical Cysts
- MELAS
- MERRF
- Methylmalonic Acidemia
- Microphthalmia with Linear Skin Defects Syndrome
- Milroy Disease
- Mitochondrial Disorders
- Mitochondrial DNA Deletion Syndromes
- Mitochondrial DNA-Associated Leigh Syndrome and NARP
- Mitochondrial Neurogastrointestinal Encephalopathy Disease
- Mowat-Wilson Syndrome
- MPV17- Related Hepatocerebral Mitochondrial DNA Depletion Syndrome
- Mucolipidosis II
- Mucolipidosis III Alpha/Beta
- Mucolipidosis III Gamma
- Mucolipidosis IV
- Mucopolysaccharidosis Type I
- Mucopolysaccharidosis Type II
- Mucopolysaccharidosis Type IVA
- Muenke Syndrome
- Multiminicore Disease
- Multiple Cutaneous and Mucosal Venous Malformations
- Multiple Endocrine Neoplasia Type 1
- Multiple Endocrine Neoplasia Type 2
- Multiple Epiphyseal Dysplasia, Dominant
- Multiple Epiphyseal Dysplasia, Recessive
- Multiple Sclerosis
- MUTYH-Associated Polyposis
- MYH9-Related Disorders
- Myoclonus-Dystonia
- Myofibrillar Myopathy
- Myopathy with Deficiency of ISCU
- Myostatin-Related Muscle Hypertrophy
- Myotonia Congenita
- Myotonic Dystrophy Type 1
- Myotonic Dystrophy Type 2
- Nail-Patella Syndrome
- NDP-Related Retinopathies
- Nemaline Myopathy
- Nephrogenic Diabetes Insipidus
- Neurodegeneration with Brain Iron Accumulation
- Neuroferritinopathy
- Neurofibromatosis 1
- Neurofibromatosis 2
- Neuronal Ceroid-Lipofuscinoses
- Nevoid Basal Cell Carcinoma Syndrome
- Niemann-Pick Disease Type C
- Nijmegen Breakage Syndrome
- Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant
- Nonsyndromic Hearing Loss and Deafness, Mitochondrial
- Noonan Syndrome
- NSDHL-Related Disorders