MYT1L-related developmental delay-intellectual disability-obesity syndrome

Autosomal dominant

Macrocephaly-intellectual disability-autism syndrome

Autosomal dominant

Infancy, Neonatal

Macrophagic myofasciitis

Not applicable

Adolescent, Adult, Childhood, Elderly

Macrothrombocytopenia with mitral valve insufficiency

Childhood

Macular corneal dystrophy

Autosomal recessive

All ages

Maculopapular cutaneous mastocytosis

Not applicable

All ages

Madras motor neuron disease

Not applicable, X-linked recessive

Adolescent, Adult, Childhood

Maffucci syndrome

Not applicable

Childhood

Majeed syndrome

Autosomal recessive

Childhood, Infancy

Mal de Meleda

Autosomal recessive

Childhood, Infancy

Malakoplakia

Unknown

Adult

Malaria

Not applicable

All ages

Male infertility with azoospermia or oligozoospermia due to single gene mutation

Autosomal dominant, Autosomal recessive, X-linked recessive

Adolescent, Adult

Male infertility with teratozoospermia due to single gene mutation

Adolescent, Adult

Malignant Sertoli-Leydig cell tumor of the ovary

Adolescent, Adult, Childhood, Elderly

Malignant epithelial tumor of salivary glands

Not applicable

Adult

Malignant germ cell tumor of the corpus uteri

Adult, Elderly

Malignant granulosa cell tumor of the ovary

Multigenic/multifactorial

Adolescent, Adult, Elderly

Malignant hyperthermia of anesthesia

Autosomal dominant

All ages

Malignant melanoma of the mucosa

Adult, Elderly

Malignant mixed Müllerian tumor of the ovary

Adult

Malignant non-dysgerminomatous germ cell tumor of ovary

Unknown

Adolescent

Malignant peripheral nerve sheath tumor

Not applicable

Adolescent, Adult, Childhood, Elderly, Infancy

Malignant peritoneal mesothelioma

Multigenic/multifactorial, Not applicable

Adult