Macrodactyly of toes, unilateral

Autosomal dominant

Macrophage activation syndrome

Adolescent, Adult, Childhood

Macrophagic myofasciitis

Not applicable

Adolescent, Adult, Childhood, Elderly

Macrosomia-microphthalmia-cleft palate syndrome

Antenatal, Neonatal

Macrostomia-preauricular tags-external ophthalmoplegia syndrome

Autosomal dominant

Infancy, Neonatal

Macrothrombocytopenia with mitral valve insufficiency

Childhood

Macular coloboma-cleft palate-hallux valgus syndrome

Autosomal recessive

Neonatal

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

Mal de débarquement

Not applicable

All ages

Malakoplakia

Unknown

Adult

Malan overgrowth syndrome

Autosomal dominant, Unknown

Infancy

Malaria

Not applicable

All ages

Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome

Unknown

Neonatal

Male infertility due to acephalic spermatozoa

Autosomal recessive

Adult

Male infertility due to globozoospermia

Autosomal recessive

Adult

Male infertility due to large-headed multiflagellar polyploid spermatozoa

Autosomal recessive

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

Malformation of the neurenteric canal, spinal cord and column