NLRP3-associated autoinflammatory disease

Autosomal dominant, Not applicable

Adolescent, Childhood, Infancy, Neonatal

NMDA receptor encephalitis

Not applicable

All ages

NOCARH syndrome

Autosomal dominant

Infancy, Neonatal

NPHP3-related Meckel-like syndrome

Autosomal recessive

Childhood

NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance

Autosomal recessive

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

Nager syndrome

Autosomal dominant, Autosomal recessive, Not applicable

Antenatal, Neonatal

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

Autosomal recessive

Infancy

Nail-patella syndrome

Autosomal dominant

Antenatal, Childhood, Infancy, Neonatal

Nail-patella-like renal disease

Autosomal dominant

Infancy, Neonatal

Nance-Horan syndrome

X-linked dominant

Neonatal

Nanophthalmos

Autosomal dominant, Autosomal recessive, Not applicable

Infancy, Neonatal

Narcolepsy type 1

Unknown

Adolescent, Adult, Childhood

Narcolepsy type 2

Unknown

Adolescent, Adult, Childhood

Nasal encephalocele

Unknown

Nasal ganglioglioma

Antenatal, Neonatal

Nasal glial heterotopia

Not applicable

Nasolacrimal duct cyst

Not applicable

Adult, Infancy, Neonatal

Nasopalpebral lipoma-coloboma syndrome

Autosomal dominant

Neonatal

Nasopharyngeal carcinoma

Multigenic/multifactorial, Not applicable

All ages

Nasu-Hakola disease

Autosomal recessive

Adolescent, Adult

Nathalie syndrome

Childhood