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

Hyperostosis cranialis interna

Autosomal dominant

Adolescent, Adult, Childhood

Hyperparathyroidism-jaw tumor syndrome

Autosomal dominant

Adolescent, Adult

Hyperphenylalaninemia due to DNAJC12 deficiency

Autosomal recessive

Infancy

Hyperphenylalaninemia due to tetrahydrobiopterin deficiency

Autosomal recessive

Infancy, Neonatal

Hyperphosphatasia-intellectual disability syndrome

Autosomal recessive

Infancy, Neonatal

Hyperprolinemia type 1

Autosomal recessive

All ages

Hyperprolinemia type 2

Autosomal recessive

All ages

Hypersensitivity pneumonitis

Not applicable

All ages

Hypertrichosis lanuginosa congenita

Autosomal dominant

Childhood

Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation

No data available

Infancy, Neonatal

Hypertrophic olivary degeneration

Hypertryptophanemia

Autosomal recessive

Childhood, Infancy, Neonatal

Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome

Autosomal recessive

Infancy, Neonatal

Hyperzincemia and hypercalprotectinemia

Unknown

Childhood

Hypnic headache

Not applicable

Adult, Childhood, Elderly

Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome

Unknown

Infancy, Neonatal