Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency

Autosomal recessive

Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency

Autosomal recessive

Neuhauser-Eichner-Opitz syndrome

Autosomal dominant

Childhood, Infancy

Neural tube closure defect

Neural tube defect

Neuralgic amyotrophy

Autosomal dominant, Not applicable

Adult

Neurenteric cyst

Infancy, Neonatal

Neuroacanthocytosis

Neuroblastoma

Not applicable

Adolescent, Antenatal, Childhood, Infancy, Neonatal

Neurocutaneous melanocytosis

Not applicable

Childhood

Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency

Autosomal recessive

Infancy

Neurodegeneration with brain iron accumulation

Autosomal dominant, Autosomal recessive, X-linked dominant

Adolescent, Adult, Childhood, Infancy

Neurodegenerative syndrome due to cerebral folate transport deficiency

Autosomal recessive

Childhood

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

Autosomal dominant

Infancy

Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome

Autosomal dominant

Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome

Autosomal recessive

Infancy

Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome

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-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion

Not applicable, Unknown

Infancy, Neonatal

Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation

Autosomal dominant, Not applicable

Neonatal

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

Autosomal recessive