HNRNPA1-related adult-onset distal myopathy

Adult

HNRNPDL-related limb-girdle muscular dystrophy D3

Autosomal dominant

Adolescent, Adult

HSD10 disease

X-linked dominant

Childhood, Infancy, Neonatal

HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome

Autosomal dominant

Adolescent, Adult, Childhood

HTRA1-related autosomal dominant cerebral small vessel disease

Autosomal dominant

Adult, Elderly

Hailey-Hailey disease

Autosomal dominant

Adult

Haim-Munk syndrome

Autosomal recessive

Childhood, Infancy

Hairy cell leukemia variant

Unknown

Adult, Elderly

Hao-Fountain syndrome

Infancy, Neonatal

Harderoporphyria

Autosomal recessive

Neonatal

Harlequin ichthyosis

Autosomal recessive

Neonatal

Harlequin syndrome

Not applicable

All ages

Hartnup disease

Autosomal recessive

All ages

Hawkinsinuria

Autosomal dominant

Infancy, Neonatal

Heavy chain disease

Adult

Heiner syndrome

Infancy

Helicoid peripapillary chorioretinal degeneration

Autosomal dominant

Infancy, Neonatal

Hemangioblastoma

Adult

Heme oxygenase-1 deficiency

Autosomal recessive

Adolescent, Childhood

Hemicrania continua

Not applicable

Hemidystonia-hemiatrophy syndrome

Not applicable

Adolescent, Adult, Childhood, Infancy, Neonatal

Hemifacial spasm

Adult, Elderly

Hemiparkinsonism-hemiatrophy syndrome

Adolescent, Adult

Hemoglobin Bart's fetalis syndrome

Autosomal recessive

Antenatal, Neonatal