Huntington disease-like syndrome due to C9ORF72 expansions

Autosomal dominant

Adult

Huriez syndrome

Autosomal dominant

Infancy, Neonatal

Hutchinson-Gilford progeria syndrome

Autosomal dominant, Autosomal recessive

Infancy, Neonatal

Hyaline fibromatosis syndrome

Childhood, Infancy, Neonatal

Hyaluronidase deficiency

Autosomal recessive

Childhood

Hydatidiform mole

Autosomal recessive, Not applicable

Adolescent, Adult

Hydroa vacciniforme

Not applicable

Childhood

Hydroa vacciniforme-like lymphoma

Not applicable

Adult, Childhood

Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome

Neonatal

Hydroxykynureninuria

Autosomal recessive

Infancy, Neonatal

Hymenolepiasis

Not applicable

All ages

Hyper-beta-alaninemia

Neonatal

Hyperammonemia due to N-acetylglutamate synthase deficiency

Autosomal recessive

All ages

Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency

Autosomal recessive

Childhood, 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

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