Disease list

Mandibuloacral dysplasia
Maturity-onset diabetes of the young, type 2; MODY2
Meckel syndrome 2
Medullary cystic kidney disease 2
Medullary thyroid carcinoma
Megalencephalic leukoencephalopathy with subcortical cysts
Megaloblastic anemia-1, Norwegian type
Melanoma, cutaneous malignant, 2
Melanoma, cutaneous malignant, susceptibility to, 10
Meleda disease
Membranous glomerulonephritis, antenatal
MHC class II deficiency, complementation group B
Microphthalmia, isolated 6
Mitochondrial complex IV deficiency
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Miyoshi muscular dystrophy 1
Miyoshi muscular dystrophy 3
Mucopolysaccharidisis type IIIA (Sanfilippo A)
Mucopolysaccharidosis Ih (Hurler Syndrome)
Mucopolysaccharidosis IVA (Morquio A syndrome)
Mucopolysaccharidosis type VI (Maroteaux-Lamy)
Multiple endocrine neoplasia IIA
Multiple mitochondrial dysfunctions syndrome 1
Muscular dystrophy, congenital merosin-deficient
Muscular dystrophy, limb-girdle, type 2A
Muscular dystrophy, limb-girdle, type 2B
Muscular dystrophy, limb-girdle, type 2C
Muscular dystrophy, limb-girdle, type 2E
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2
Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
Myoglobinuria, acute recurrent, autosomal recessive
Myopathy, distal, with anterior tibial onset
Myopathy, vacuolar, with CASQ1 aggregates
Myotonic dystrophy 2