Hyperammonemia due to N-acetylglutamate synthase deficiency

Autosomal recessive

All ages

Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency

Autosomal recessive

Childhood, Infancy, Neonatal

Hyperandrogenism due to cortisone reductase deficiency

Autosomal dominant, Autosomal recessive

Antenatal, Infancy, Neonatal

Hyperbiliverdinemia

Autosomal dominant, Autosomal recessive

Adult

Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency

Semi-dominant

Adult

Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

Autosomal recessive

Infancy, Neonatal

Hyperekplexia-epilepsy syndrome

X-linked recessive

Neonatal

Hypereosinophilic syndrome

Not applicable, Unknown

All ages

Hypergonadotropic hypogonadism-cataract syndrome

Autosomal recessive

Adolescent

Hyperimmunoglobulinemia D with periodic fever

Autosomal recessive

Infancy

Hyperinsulinism due to HNF1A deficiency

Autosomal dominant

Infancy, Neonatal

Hyperinsulinism due to INSR deficiency

Autosomal dominant

Adolescent, Adult

Hyperinsulinism due to UCP2 deficiency

Autosomal dominant

Infancy, Neonatal

Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency

Autosomal recessive

Infancy, Neonatal

Hyperinsulinism-hyperammonemia syndrome

Autosomal dominant

Infancy, Neonatal

Hyperkalemic periodic paralysis

Autosomal dominant

Childhood

Hyperkeratosis lenticularis perstans

Autosomal dominant, Not applicable

Adult

Hyperkeratosis-hyperpigmentation syndrome

Autosomal dominant

Adolescent, Childhood, Infancy

Hyperlipidemia due to hepatic triacylglycerol lipase deficiency

Autosomal recessive

No data available

Hyperlysinemia

Autosomal recessive

All ages

Hypermethioninemia due to glycine N-methyltransferase deficiency

Autosomal recessive

Hypermethioninemia encephalopathy due to adenosine kinase deficiency

Autosomal recessive

Childhood

Hypermobile Ehlers-Danlos syndrome

Autosomal dominant, Autosomal recessive

All ages

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

Autosomal recessive

Adolescent, Adult, Childhood, Infancy, Neonatal