Hyperostosis corticalis generalisata

Autosomal dominant, Autosomal recessive

Adolescent, Childhood

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

Hypertelorism-hypospadias-polysyndactyly syndrome

Autosomal recessive

Neonatal

Hypertelorism-microtia-facial clefting syndrome

Autosomal recessive

Antenatal, Neonatal

Hypertelorism-preauricular sinus-punctual pits-deafness syndrome

Autosomal dominant

Infancy, Neonatal

Hypertrichosis cubiti

Autosomal dominant

Childhood

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

Hypocalcemic vitamin D-dependent rickets

Autosomal recessive

Infancy, Neonatal

Hypocalcemic vitamin D-resistant rickets

Autosomal recessive

Infancy, Neonatal

Hypocalcified amelogenesis imperfecta

Autosomal dominant, Autosomal recessive