Methylmalonic acidemia with homocystinuria

Autosomal recessive, X-linked recessive

All ages

Mevalonate kinase deficiency

Not applicable

Infancy

MiT family translocation renal cell carcinoma

Adolescent, Adult, Childhood, Elderly, Infancy

Microcephalic osteodysplastic dysplasia, Saul-Wilson type

Autosomal recessive

Neonatal

Microcephaly-complex motor and sensory axonal neuropathy syndrome

Autosomal recessive

Antenatal, Infancy, Neonatal

Microcephaly-thin corpus callosum-intellectual disability syndrome

Autosomal recessive

Infancy

Microcornea-myopic chorioretinal atrophy-telecanthus syndrome

Autosomal recessive

Childhood

Microcystic stromal tumor

Adult

Microcytic anemia with liver iron overload

Autosomal recessive

Infancy, Neonatal

Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome

Autosomal dominant, Autosomal recessive

Neonatal

Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome

Autosomal recessive

Adult

Microscopic polyangiitis

Not applicable

Adult, Childhood

Microsporidiosis

Not applicable

All ages

Microvenular haemangioma

Adult

Microvillus inclusion disease

Autosomal recessive

Infancy, Neonatal

Mid-dermal elastolysis

Not applicable

Adult

Middle East respiratory syndrome

All ages

Middle ear neuroendocrine tumor

Adolescent, Adult, Elderly

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

Mills syndrome

Adolescent, Adult, Childhood, Elderly

Milroy disease

Autosomal dominant

Antenatal, Infancy, Neonatal

Mitchell Syndrome

Autosomal dominant

Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

Mitochondrial inheritance

Infancy