Myotonic dystrophy

Myxofibrosarcoma

Not applicable

Adult

Myxoid/round cell liposarcoma

Not applicable

Adult

Myxopapillary ependymoma

Not applicable

Adolescent, All ages, Childhood

Ménétrier disease

Autosomal dominant, Not applicable, Unknown

Adolescent, Adult, Childhood

Müllerian aplasia

Autosomal dominant

Adolescent, Adult

Müllerian aplasia and hyperandrogenism

Autosomal dominant, Not applicable

Infancy, Neonatal

Müllerian derivatives-lymphangiectasia-polydactyly syndrome

Unknown

Antenatal, Neonatal

Müllerian duct anomalies-limb anomalies syndrome

Neonatal

N syndrome

X-linked recessive

Infancy, Neonatal

NAD(P)HX dehydratase deficiency

Autosomal recessive

Childhood, Infancy

NAD(P)HX epimerase deficiency

Autosomal recessive

Infancy

NARP syndrome

Mitochondrial inheritance

Childhood

NDE1-related microhydranencephaly

Autosomal recessive

Antenatal, Neonatal

NEK9-related lethal skeletal dysplasia

Autosomal recessive

Antenatal

NEMO deleted exon 5 autoinflammatory syndrome

X-linked dominant, X-linked recessive

NESCAV syndrome

Autosomal dominant

Childhood, Infancy

NFKB1-related immune dysregulation

Autosomal dominant

NIK deficiency

Autosomal recessive

Infancy, Neonatal

NK-cell enteropathy

Not applicable

Adult

NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome

X-linked recessive

NKX6-2-related autosomal recessive hypomyelinating leukodystrophy

Autosomal recessive

Childhood, Infancy

NLRC4-related familial cold autoinflammatory syndrome

Autosomal dominant

Childhood, Infancy

NLRP12-associated hereditary periodic fever syndrome

Autosomal dominant

Infancy, Neonatal