Male infertility due to large-headed multiflagellar polyploid spermatozoa

Autosomal recessive

Malignant atrophic papulosis

Autosomal dominant

Adult

Mandibuloacral dysplasia with type A lipodystrophy

Autosomal recessive

Infancy, Neonatal

Mandibuloacral dysplasia with type B lipodystrophy

Autosomal recessive

Infancy, Neonatal

Marfan syndrome type 1

Autosomal dominant

All ages

Marfan syndrome type 2

Autosomal dominant

All ages

Mayer-Rokitansky-Küster-Hauser syndrome type 1

Autosomal dominant, Not applicable

Adolescent, Antenatal

Mayer-Rokitansky-Küster-Hauser syndrome type 2

Autosomal dominant, Not applicable

Adolescent, Antenatal, Neonatal

Metachromatic leukodystrophy, adult form

Autosomal recessive

Adult

Metachromatic leukodystrophy, juvenile form

Autosomal recessive

Adolescent, Childhood

Metachromatic leukodystrophy, late infantile form

Autosomal recessive

Infancy

Methylcobalamin deficiency type cblDv1

Autosomal recessive

Methylcobalamin deficiency type cblE

Autosomal recessive

Childhood

Methylcobalamin deficiency type cblG

Autosomal recessive

All ages

Methylmalonic acidemia with homocystinuria type cblF

Autosomal recessive

Childhood

Methylmalonic acidemia with homocystinuria, type cblC

Autosomal recessive

All ages

Methylmalonic acidemia with homocystinuria, type cblD

Autosomal recessive

All ages

Methylmalonic acidemia with homocystinuria, type cblJ

Autosomal recessive

Infancy, Neonatal

Methylmalonic acidemia with homocystinuria, type cblX

X-linked recessive

Infancy, Neonatal

Mevalonic aciduria

Autosomal recessive

Childhood, Infancy, Neonatal

Microcephaly-micromelia syndrome

Autosomal recessive

Antenatal

Microcephaly-short stature-limb abnormalities syndrome

Autosomal recessive

Antenatal

Midline interhemispheric variant of holoprosencephaly

Multigenic/multifactorial, Not applicable

Infancy, Neonatal

Mild Canavan disease

Autosomal recessive

Childhood