Disease List
- Male Turner syndrome - See Noonan syndrome
- Malignant hyperthermia susceptibility
- Maple syrup urine disease
- Marfan syndrome
- Maroteaux-Lamy syndrome - See Mucopolysaccharidosis Type VI
- MCAD deficiency - See Acyl-coa dehydrogenase, medium-chain, deficiency of
- MCC deficiency - See 3-methylcrotonyl-coa carboxylase deficiency (3-MCC)
- MCCD type 1 - See 3-methylcrotonyl-coa carboxylase deficiency (3-MCC)
- MCD - See Holocarboxylase synthetase deficiency
- MDLS - See Miller-Dieker lissencephaly syndrome
- MDS - See Miller-Dieker lissencephaly syndrome
- Meckel syndrome
- Meier-Gorlin syndrome
- Melanodermic leukodystrophy - See Adrenoleukodystrophy
- MEN1 - See Multiple endocrine neoplasia 1
- Metachromatic leukodystrophy
- Methylcrotonyl-CoA carboxylase deficiency - See 3-methylcrotonyl-coa carboxylase deficiency (3-MCC)
- Microcephaly
- Miller-Dieker lissencephaly syndrome
- Mitochondrial DNA depletion syndrome 1 (MNGIE type)
- Molar pregnancy - See Hydatidiform mole
- Morquio - See Mucopolysaccharidosis Type IVA
- Morquio syndrome IVB - See Mucopolysaccharidosis type IVB
- Morquio syndrome type B - See Mucopolysaccharidosis type IVB
- Mosaic trisomy 14
- Mosaic trisomy 15
- Mosaic trisomy 8
- Mosaic trisomy 9
- Mowat-Wilson syndrome
- MPS I - See Mucopolysaccharidosis Type I
- MPS I H - See Mucopolysaccharidosis Type I
- MPS I H-S - See Mucopolysaccharidosis Type I
- MPS I S - See Mucopolysaccharidosis Type I
- MPS II - See Mucopolysaccharidosis Type II
- MPS III - See Mucopolysaccharidosis Type III
- MPS IV - See Mucopolysaccharidosis Type IVA
- MPS IV A - See Mucopolysaccharidosis Type IVA
- MPS type IV - See Mucopolysaccharidosis Type IVA
- MPS VI - See Mucopolysaccharidosis Type VI
- MPS VII - See Mucopolysaccharidosis Type VII
- Mucolipidosis ii alpha/beta
- Mucolipidosis iii alpha/beta
- Mucolipidosis iv
- mucopolysaccharidosis I - See Mucopolysaccharidosis Type I
- Mucopolysaccharidosis Type I
- Mucopolysaccharidosis Type II
- Mucopolysaccharidosis Type III
- Mucopolysaccharidosis Type IVA
- Mucopolysaccharidosis type IVB
- Mucopolysaccharidosis Type VI
- Mucopolysaccharidosis Type VII
- Muir-Torre syndrome
- Multiple carboxylase deficiency - See Holocarboxylase synthetase deficiency
- Multiple co-A carboxylase deficiency - See Holocarboxylase synthetase deficiency
- Multiple endocrine neoplasia 1
- Multiple endocrine neoplasia 2
- multiple hamartoma syndrome - See Cowden syndrome
- Myotonic Dystrophy
