Familial syringomyelia

Autosomal dominant, Autosomal recessive

Infancy, Neonatal

Familial thoracic aortic aneurysm and aortic dissection

Autosomal dominant

Adolescent, Adult, Childhood

Familial thrombocytosis

Autosomal dominant, X-linked recessive

Childhood

Familial thyroglossal duct cyst

Infancy, Neonatal

Familial thyroid dyshormonogenesis

Autosomal recessive

Infancy, Neonatal

Familial tumoral calcinosis

Autosomal recessive

Childhood

Familial vesicoureteral reflux

Autosomal dominant

All ages

Familial visceral myopathy

Autosomal dominant

All ages

Fanconi anemia

Autosomal recessive, X-linked recessive

Childhood

Fanconi-Bickel syndrome

Autosomal recessive

Infancy, Neonatal

Farber disease

Autosomal recessive

Antenatal, Childhood, Infancy, Neonatal

Fast-channel congenital myasthenic syndrome

Autosomal dominant, Autosomal recessive

Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease

Not applicable

Antenatal, Neonatal

Fatal familial insomnia

Autosomal dominant

Adult

Fatal infantile cytochrome C oxidase deficiency

Autosomal recessive

Infancy, Neonatal

Fatal infantile hypertonic myofibrillar myopathy

Autosomal recessive

Infancy, Neonatal

Fatal infantile lactic acidosis with methylmalonic aciduria

Autosomal recessive

Infancy, Neonatal

Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

Autosomal recessive

Infancy, Neonatal

Fatal post-viral neurodegenerative disorder

Autosomal recessive

Childhood

Fatty acid hydroxylase-associated neurodegeneration

Autosomal recessive

Adolescent, Childhood

Fatty acyl-CoA reductase 1 deficiency

Autosomal recessive

Infancy, Neonatal

Febrile infection-related epilepsy syndrome

Not applicable

All ages

Feingold syndrome

Autosomal dominant

Antenatal, Neonatal

Feingold syndrome type 1

Autosomal dominant

Antenatal, Neonatal