Neuronal intranuclear inclusion disease

Autosomal dominant

Adolescent, Adult, Childhood, Infancy

Neurooculocardiogenitourinary syndrome

Autosomal dominant

Infancy, Neonatal

Neuropathy with hearing impairment

Autosomal dominant

Adult

Neurotrophic keratopathy

Not applicable

Adult, Childhood

Neurovascular malformation

All ages

Neutral lipid storage disease

Autosomal recessive

Infancy, Neonatal

Neutral lipid storage disease with ichthyosis

Autosomal recessive

Infancy, Neonatal

Neutral lipid storage disease with myopathy

Autosomal recessive

Adult

Neutropenia-monocytopenia-deafness syndrome

Unknown

Infancy, Neonatal

Nevus comedonicus syndrome

Not applicable

Childhood, Infancy, Neonatal

Nevus of Ito

Not applicable

All ages

Nevus of Ota

Not applicable

All ages

New-onset refractory status epilepticus

Adult

Nicolaides-Baraitser syndrome

Autosomal dominant

Infancy, Neonatal

Nicolau syndrome

Niemann-Pick disease type C

Autosomal recessive

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

Night blindness-skeletal anomalies-dysmorphism syndrome

Childhood

Nijmegen breakage syndrome

Autosomal recessive

Antenatal, Infancy, Neonatal

Nijmegen breakage syndrome-like disorder

Autosomal recessive

Neonatal