Holt-Oram syndrome

Autosomal dominant

Antenatal, Neonatal

Holzgreve syndrome

Antenatal, Neonatal

Homocystinuria due to cystathionine beta-synthase deficiency

Autosomal recessive

Adolescent, Adult, Childhood

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Autosomal recessive

Infancy, Neonatal

Homocystinuria without methylmalonic aciduria

Autosomal recessive

All ages

Homozygous 2p21 microdeletion syndrome

Not applicable

Homozygous familial hypercholesterolemia

Autosomal dominant, Autosomal recessive

Neonatal

Homozygous hemoglobin O Arab disease

Autosomal recessive

Horizontal gaze palsy with progressive scoliosis

Autosomal recessive

Adolescent, Childhood

Hot water reflex epilepsy

Autosomal dominant

All ages

Hoyeraal-Hreidarsson syndrome

Autosomal dominant, Autosomal recessive, X-linked recessive

Infancy, Neonatal

Hughes-Stovin syndrome

Not applicable

Adult

Human infection by orthopoxvirus

Not applicable

All ages

Human prion disease

Adult

Humerus trochlea aplasia

Neonatal

Hunter-McAlpine syndrome

Antenatal, Infancy, Neonatal

Huntington disease

Autosomal dominant

Adolescent, Adult, Childhood, Elderly

Huntington disease-like 1

Autosomal dominant

Adult

Huntington disease-like 2

Autosomal dominant

Adult

Huntington disease-like 3

Autosomal recessive

Childhood

Huntington disease-like syndrome

Huntington disease-like syndrome due to C9ORF72 expansions

Autosomal dominant

Adult

Huriez syndrome

Autosomal dominant

Infancy, Neonatal

Hurler syndrome

Autosomal recessive

Infancy, Neonatal