Myospherulosis

Not applicable

Adult

Myotonia fluctuans

Autosomal dominant

Childhood

Myotonia permanens

Autosomal dominant

Childhood

Myxofibrosarcoma

Not applicable

Adult

Myxopapillary ependymoma

Not applicable

Adolescent, All ages, Childhood

Ménétrier disease

Autosomal dominant, Not applicable, Unknown

Adolescent, Adult, Childhood

NAD(P)HX dehydratase deficiency

Autosomal recessive

Childhood, Infancy

NAD(P)HX epimerase deficiency

Autosomal recessive

Infancy

NARP syndrome

Mitochondrial inheritance

Childhood

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

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

NMDA receptor encephalitis

Not applicable

All ages

NOCARH syndrome

Autosomal dominant

Infancy, Neonatal

NTHL1-related polyposis

Autosomal recessive

Adult, Elderly

NUT midline carcinoma

Not applicable

Adolescent, Adult, Childhood, Elderly

Naegeli-Franceschetti-Jadassohn syndrome

Autosomal dominant

Infancy, Neonatal

Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome

Autosomal recessive

Infancy

Nail-patella-like renal disease

Autosomal dominant

Infancy, Neonatal