Hallermann-Streiff-like syndrome

Antenatal, Neonatal

Hallux varus-preaxial polysyndactyly syndrome

Neonatal

Hamel cerebro-palato-cardiac syndrome

X-linked recessive

Infancy, Neonatal

Hand-foot-genital syndrome

Autosomal dominant

Antenatal, Neonatal

Hao-Fountain syndrome

Infancy, Neonatal

Hao-Fountain syndrome due to 16p13.2 microdeletion

Not applicable

Childhood, Infancy

Hao-Fountain syndrome due to USP7 mutation

Harderoporphyria

Autosomal recessive

Neonatal

Hardikar syndrome

X-linked dominant

Neonatal

Harlequin ichthyosis

Autosomal recessive

Neonatal

Harlequin syndrome

Not applicable

All ages

Harrod syndrome

Infancy, Neonatal

Hartnup disease

Autosomal recessive

All ages

Hartsfield syndrome

Autosomal dominant, Autosomal recessive

Antenatal

Hawkinsinuria

Autosomal dominant

Infancy, Neonatal

Hearing loss-familial salivary gland insensitivity to aldosterone syndrome

Infancy, Neonatal

Heart defect-tongue hamartoma-polysyndactyly syndrome

Autosomal recessive

Neonatal

Heart defects-limb shortening syndrome

Autosomal recessive

Neonatal

Heart-hand syndrome type 2

Infancy, Neonatal

Heart-hand syndrome type 3

Neonatal

Heart-hand syndrome, Slovenian type

Autosomal dominant

Adult

Heavy chain disease

Adult

Heiner syndrome

Infancy

Helicoid peripapillary chorioretinal degeneration

Autosomal dominant

Infancy, Neonatal