Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis

Autosomal dominant

Adolescent, Adult, Childhood

Miller Fisher syndrome

Multigenic/multifactorial, Not applicable

All ages

Miller-Dieker syndrome

Autosomal dominant

Antenatal, Infancy, Neonatal

Mills syndrome

Adolescent, Adult, Childhood, Elderly

Milroy disease

Autosomal dominant

Antenatal, Infancy, Neonatal

Minimal pigment oculocutaneous albinism type 1

Autosomal recessive

Infancy, Neonatal

Mirizzi syndrome

Adult, Elderly

Mirror polydactyly-vertebral segmentation-limbs defects syndrome

Antenatal, Infancy, Neonatal

Mirror-image polydactyly

Mitchell Syndrome

Autosomal dominant

Mitochondrial DNA depletion syndrome

All ages

Mitochondrial DNA depletion syndrome, encephalomyopathic form

Autosomal recessive

Infancy, Neonatal

Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

Mitochondrial inheritance

Infancy

Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy

Autosomal recessive

Infancy, Neonatal

Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies

Autosomal recessive

Infancy, Neonatal

Mitochondrial DNA depletion syndrome, hepatocerebral form

Autosomal recessive

Infancy, Neonatal

Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency

Autosomal recessive

Childhood, Infancy, Neonatal

Mitochondrial DNA depletion syndrome, hepatocerebrorenal form

Autosomal recessive

Infancy, Neonatal

Mitochondrial DNA depletion syndrome, myopathic form

Autosomal recessive

Infancy, Neonatal

Mitochondrial DNA-associated Leigh syndrome

Mitochondrial inheritance

Childhood, Infancy

Mitochondrial DNA-related cardiomyopathy and hearing loss

Mitochondrial inheritance

Adult, Childhood

Mitochondrial DNA-related dystonia

Mitochondrial inheritance

Childhood

Mitochondrial DNA-related mitochondrial myopathy

Mitochondrial inheritance

Mitochondrial DNA-related progressive external ophthalmoplegia

Mitochondrial inheritance, Not applicable

Adolescent, Adult