Müllerian aplasia

Autosomal dominant

Adolescent, Adult

NLRP3-associated autoinflammatory disease

Autosomal dominant, Not applicable

Adolescent, Childhood, Infancy, Neonatal

Nemaline myopathy

Autosomal dominant, Autosomal recessive, Not applicable

All ages

Neuroacanthocytosis

Neurodegeneration with brain iron accumulation

Autosomal dominant, Autosomal recessive, X-linked dominant

Adolescent, Adult, Childhood, Infancy

Neuronal ceroid lipofuscinosis

Autosomal dominant, Autosomal recessive

All ages

Neutral lipid storage disease

Autosomal recessive

Infancy, Neonatal

Non-histaminic angioedema

Autosomal dominant, Not applicable

All ages

Non-rhizomelic chondrodysplasia punctata

Autosomal dominant, Autosomal recessive, X-linked dominant, X-linked recessive

Infancy, Neonatal

Non-syndromic anorectal malformation

Antenatal, Neonatal

Non-syndromic craniosynostosis

Infancy, Neonatal

Non-syndromic hemimelia

Not applicable

Neonatal

Non-syndromic pontocerebellar hypoplasia

Autosomal recessive

Antenatal, Infancy, Neonatal

Oblique facial cleft

Infancy, Neonatal

Oculocutaneous albinism

Autosomal recessive

Neonatal

Oligoastrocytic tumor

Oligodendroglial tumor

Multigenic/multifactorial, Not applicable

Adult

Open spinal dysraphism

Multigenic/multifactorial, Not applicable

Infancy, Neonatal

Oromandibular-limb hypogenesis syndrome

Infancy, Neonatal

Osteopetrosis and related disorders

Autosomal dominant, Autosomal recessive, X-linked recessive

All ages

Paramedian facial cleft

Antenatal, Neonatal

Paroxysmal dyskinesia

Autosomal dominant, Not applicable

Childhood

Peeling skin syndrome

Autosomal recessive

Infancy, Neonatal

Peroxisome biogenesis disorder

Autosomal recessive

Infancy, Neonatal