Non-syndromic pontocerebellar hypoplasia

Autosomal recessive

Antenatal, Infancy, Neonatal

Non-syndromic posterior hypospadias

Multigenic/multifactorial, X-linked recessive

Antenatal, Neonatal

Non-syndromic pouch colon

Neonatal

Non-syndromic rectal atresia

Neonatal

Non-syndromic rectal stenosis

Neonatal

Non-syndromic rectourethral fistula

Neonatal

Non-syndromic rectovaginal fistula

Neonatal

Non-syndromic rectovesical fistula

Neonatal

Non-syndromic sagittal craniosynostosis

Autosomal dominant, Not applicable

Infancy, Neonatal

Non-syndromic unicoronal and sagittal craniosynostosis

Neonatal

Non-syndromic unicoronal craniosynostosis

Neonatal

Non-syndromic unifrontosphenoidal craniosynostosis

Neonatal

Non-syndromic unilambdoid craniosynostosis

Neonatal

Non-syndromic unisquamosal craniosynostosis

Neonatal

Non-syndromic vestibular fistula

Neonatal

Noonan syndrome

Autosomal dominant, Autosomal recessive

Antenatal, Childhood, Infancy, Neonatal

Noonan syndrome with multiple lentigines

Autosomal dominant

Neonatal

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

Autosomal dominant

Infancy, Neonatal

Noonan syndrome-like disorder with loose anagen hair

Autosomal dominant

Antenatal, Infancy, Neonatal

Normosmic congenital hypogonadotropic hypogonadism

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

Infancy, Neonatal

Norrie disease

X-linked recessive

Antenatal, Neonatal

North Carolina macular dystrophy

Autosomal dominant

Childhood

Northern epilepsy

Autosomal recessive

Childhood

Null pituitary adenoma

Not applicable