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

Helsmoortel-Van der Aa syndrome

Unknown

Childhood, Infancy

Hemifacial hyperplasia

Not applicable

Antenatal, Infancy, Neonatal

Hemifacial myohyperplasia

Neonatal

Hemihyperplasia-multiple lipomatosis syndrome

Not applicable

Childhood

Hemimegalencephaly

Not applicable

Infancy

Hennekam syndrome

Autosomal recessive

Childhood

Hepatic arteriovenous malformation

Not applicable

Hepatic fibrosis-renal cysts-intellectual disability syndrome

Infancy, Neonatal

Hereditary gingival fibromatosis

Autosomal dominant

All ages

Hereditary mucoepithelial dysplasia

Autosomal dominant

Childhood

Hereditary neuropathy with liability to pressure palsies

Autosomal dominant

Adolescent, Adult, Childhood, Elderly, Infancy

Hereditary renal hypouricemia

Autosomal recessive

All ages

Hernández-Aguirre Negrete syndrome

Autosomal recessive

Childhood

Hidrotic ectodermal dysplasia, Christianson-Fourie type

Autosomal dominant

Infancy, Neonatal

Hidrotic ectodermal dysplasia, Halal type

Autosomal recessive

Infancy, Neonatal

Hirschsprung disease-deafness-polydactyly syndrome

Autosomal recessive

Neonatal

Hirschsprung disease-ganglioneuroblastoma syndrome

Neonatal

Hirschsprung disease-nail hypoplasia-dysmorphism syndrome

Autosomal recessive

Neonatal

Hirschsprung disease-type D brachydactyly syndrome

Neonatal

Holoprosencephaly

Autosomal recessive, Multigenic/multifactorial, Not applicable, Oligogenic, X-linked dominant

Antenatal, Neonatal