Large granular lymphocyte leukemia

Lateral facial cleft

Antenatal, Neonatal

Lichen myxedematosus

Adult, Infancy

Limb-girdle muscular dystrophy

Autosomal dominant, Autosomal recessive

All ages

Lissencephaly with cerebellar hypoplasia

Localized lipodystrophy

Unknown

All ages

Marginal papular palmoplantar keratoderma

Autosomal dominant

Marginal zone lymphoma

Adult

Median facial cleft

Antenatal, Neonatal

Mendelian susceptibility to mycobacterial diseases

Autosomal dominant, Autosomal recessive, X-linked recessive

All ages

Methylmalonic acidemia without homocystinuria

Autosomal dominant, Autosomal recessive, X-linked dominant

All ages

Mitochondrial DNA depletion syndrome, encephalomyopathic form

Autosomal recessive

Infancy, Neonatal

Mitochondrial DNA depletion syndrome, hepatocerebral form

Autosomal recessive

Infancy, Neonatal

Mitochondrial DNA-related mitochondrial myopathy

Mitochondrial inheritance

Multiple carboxylase deficiency

Autosomal recessive

Infancy, Neonatal

Multiple endocrine neoplasia

Autosomal dominant, Not applicable

All ages

Multiple epiphyseal dysplasia

Autosomal dominant, Autosomal recessive

Infancy, Neonatal

Multiple mitochondrial dysfunctions syndrome

Autosomal recessive

Mycosis fungoides and variants

Not applicable

Adult

Myelocystocele

Multigenic/multifactorial, Not applicable

Infancy, Neonatal

Myelodysplastic syndrome

All ages

Myelodysplastic/myeloproliferative disease

Myeloproliferative neoplasm

All ages

Myotonic dystrophy