NEK9-related lethal skeletal dysplasia

Autosomal recessive

Antenatal

NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome

X-linked recessive

NPHP3-related Meckel-like syndrome

Autosomal recessive

Childhood

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

Autosomal recessive

Neonatal

Nager syndrome

Autosomal dominant, Autosomal recessive, Not applicable

Antenatal, Neonatal

Nail-patella syndrome

Autosomal dominant

Antenatal, Childhood, Infancy, Neonatal

Nance-Horan syndrome

X-linked dominant

Neonatal

Nanophthalmos

Autosomal dominant, Autosomal recessive, Not applicable

Infancy, Neonatal

Nasopalpebral lipoma-coloboma syndrome

Autosomal dominant

Neonatal

Nasu-Hakola disease

Autosomal recessive

Adolescent, Adult

Nathalie syndrome

Childhood

Native American myopathy

Autosomal recessive

Infancy, Neonatal

Nephropathy-deafness-hyperparathyroidism syndrome

Autosomal recessive

Childhood

Nephrosis-deafness-urinary tract-digital malformations syndrome

Unknown

Infancy, Neonatal

Nestor-Guillermo progeria syndrome

Autosomal recessive

Childhood

Neu-Laxova syndrome

Autosomal recessive

Antenatal

Neuhauser-Eichner-Opitz syndrome

Autosomal dominant

Childhood, Infancy

Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome

Autosomal dominant

Infancy

Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome

Autosomal dominant

Neurodevelopmental delay-intellectual disability-skeletal defects syndrome

X-linked dominant

Infancy, Neonatal

Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome

Autosomal recessive

Infancy

Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome

Autosomal dominant

Infancy, Neonatal

Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome

Autosomal dominant, Not applicable

Antenatal, Infancy, Neonatal

Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome

Autosomal recessive