MAN2B2-CDG

Autosomal recessive

MBD4-related tumor predisposition syndrome

Autosomal recessive

Adult

MECP2-related severe neonatal encephalopathy

X-linked recessive

Infancy, Neonatal

MEDNIK syndrome

Autosomal recessive

Antenatal, Infancy, Neonatal

MEGDEL syndrome

Autosomal recessive

Infancy, Neonatal

MELAS

Mitochondrial inheritance, Not applicable

Adolescent, Adult, Childhood

MERRF

Mitochondrial inheritance

Adult, Childhood

MGAT2-CDG

Autosomal recessive

Infancy, Neonatal

MIRAGE syndrome

Autosomal dominant

Antenatal, Neonatal

MITF-related melanoma and renal cell carcinoma predisposition syndrome

Adult, Elderly

MME-related autosomal dominant Charcot Marie Tooth disease type 2

Autosomal dominant

Adult

MODY

Autosomal dominant, Not applicable

Adolescent, Adult, Childhood

MOGS-CDG

Autosomal recessive

Infancy, Neonatal

MORM syndrome

Autosomal recessive

Antenatal, Infancy, Neonatal

MPDU1-CDG

Autosomal recessive

Infancy, Neonatal

MPI-CDG

Autosomal recessive

Infancy, Neonatal

MRCS syndrome

Autosomal dominant

Childhood

MSH3-related polyposis

Autosomal recessive

Neonatal

MT-ATP6-related mitochondrial spastic paraplegia

Mitochondrial inheritance

Adult

MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome

Autosomal recessive

Antenatal, Infancy, Neonatal

MUTYH-related polyposis

Autosomal dominant, Autosomal recessive

Adult

MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome

Autosomal recessive

Neonatal

MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome

Autosomal dominant

Childhood

MYH9-related syndromic thrombocytopenia

Autosomal dominant

Adolescent, Adult, Childhood, Infancy, Neonatal