Disease list (M)
Macrocephaly, dysmorphic facies, and psychomotor retardationMajor histocompatibility complex class II deficiency
McArdle disease
Meckel syndrome, type 3
Meckel syndrome, type 5
Melanoma, cutaneous malignant, 2
Mental retardation, X-linked 55
Mental retardation, X-linked 58
Metachromatic leukodystrophy
Microcephaly 4, primary, autosomal recessive
Microcephaly with polymicrogyria and corpus callosum agenesis
Microcephaly, epilepsy, and diabetes syndrome
Microcephaly, primary autosomal recessive, 5
Microcephaly, short stature, and polymicrogyria with seizures
Mitochondrial complex III deficiency
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
Mitochondrial DNA depletion syndrome 3
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Mitochondrial DNA depletion syndrome 8A
Mowat-Wilson syndrome
Mucopolysaccharidosis IH (Hurler syndrome)
Mucopolysaccharidosis type IIIC (Sanfilippo C Syndrome)
Mucopolysaccharidosis Type IVA (Morquio Syndrome A)
Multiple endocrine neoplasia, type IIA
Muscular dystrophy, becker type
Muscular dystrophy, congenital merosin-deficient
Muscular dystrophy, duchenne type
Muscular dystrophy, limb-girdle, type 2B
Muscular dystrophy, limb-girdle, type 2C
Muscular dystrophy, limb-girdle, type 2D
Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency
Myopathy, centronuclear
Myopathy, distal, with anterior tibial onset
Myopathy, early-onset, with fatal cardiomyopathy
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
Myotonia congenita, recessive