Multisystem Langerhans cell histiocytosis

Not applicable

Myelodysplastic neoplasm with increased blasts type 1

Not applicable

Adult

Myelodysplastic neoplasm with increased blasts type 2

Not applicable

Adult

Nasal encephalocele

Unknown

Necrotizing cellulitis

Not applicable

Necrotizing fasciitis

Not applicable

Necrotizing myositis

Not applicable

Neonatal glycine encephalopathy

Autosomal recessive

Infancy, Neonatal

Neurogenic thoracic outlet syndrome

Not applicable

All ages

Niemann-Pick disease type C, adult neurologic onset

Autosomal recessive

Adult

Niemann-Pick disease type C, juvenile neurologic onset

Autosomal recessive

Adolescent

Niemann-Pick disease type C, late infantile neurologic onset

Autosomal recessive

Childhood

Niemann-Pick disease type C, severe early infantile neurologic onset

Autosomal recessive

Infancy, Neonatal

Niemann-Pick disease type C, severe perinatal form

Autosomal recessive

Antenatal, Neonatal

Nodular urticaria pigmentosa

Autosomal dominant, Unknown

Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency

Autosomal recessive

Non-fibrotic hypersensitivity pneumonitis

Not applicable

Non-hereditary retinoblastoma

Not applicable

Infancy, Neonatal

Non-immune hydrops fetalis

Not applicable

Antenatal, Neonatal

Normosmic congenital hypogonadotropic hypogonadism

Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, X-linked recessive

Infancy, Neonatal

Northern epilepsy

Autosomal recessive

Childhood

Null syndrome

X-linked recessive

Childhood

Occipital encephalocele

Autosomal dominant

Ocular cystinosis

Autosomal recessive

Adult