MASA syndrome

X-linked recessive

Neonatal

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

MEHMO syndrome

X-linked recessive

Antenatal, Infancy, Neonatal

MELAS

Mitochondrial inheritance, Not applicable

Adolescent, Adult, Childhood

MEND syndrome

X-linked recessive

Infancy, Neonatal

MEPAN syndrome

Autosomal recessive

Childhood, Infancy

MERRF

Mitochondrial inheritance

Adult, Childhood

MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect

Autosomal recessive

Infancy

MGAT2-CDG

Autosomal recessive

Infancy, Neonatal

MIR140-related spondyloepiphyseal dysplasia

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

MMEP syndrome

Antenatal, Neonatal

MODY

Autosomal dominant, Not applicable

Adolescent, Adult, Childhood

MOGS-CDG

Autosomal recessive

Infancy, Neonatal

MOMO syndrome

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