Familial recurrent peripheral facial palsy

Adolescent, Adult, Childhood

Familial renal glucosuria

Autosomal dominant, Autosomal recessive

All ages

Familial spontaneous pneumothorax

Autosomal dominant

Adolescent, Adult

Familial steroid-resistant nephrotic syndrome with adrenal insufficiency

Autosomal recessive

Familial steroid-resistant nephrotic syndrome with sensorineural deafness

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 thyroid dyshormonogenesis

Autosomal recessive

Infancy, Neonatal

Familial tumoral calcinosis

Autosomal recessive

Childhood

Familial visceral myopathy

Autosomal dominant

All ages

Fanconi-Bickel syndrome

Autosomal recessive

Infancy, Neonatal

Farber disease

Autosomal recessive

Antenatal, Childhood, Infancy, Neonatal

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

Felty syndrome

Unknown

Adult

Female infertility due to oocyte meiotic arrest

Autosomal recessive

Adolescent, Adult