Isolated Pierre Robin sequence

Autosomal dominant, Multigenic/multifactorial, Not applicable, Unknown

Antenatal, Neonatal

Isolated absence of upper arm and forearm with hand present

Infancy, Neonatal

Isolated absence/hypoplasia of fingers excluding thumb, unilateral

Autosomal dominant, Not applicable

Antenatal, Neonatal

Isolated acheiropodia

Autosomal recessive

Antenatal, Neonatal

Isolated adrenal medullary hyperplasia

Not applicable

Isolated agenesis of gallbladder

Not applicable

All ages

Isolated amyelia

Infancy, Neonatal

Isolated anal canal duplication

Childhood

Isolated anencephaly

Multigenic/multifactorial

Antenatal

Isolated anencephaly/exencephaly

Multigenic/multifactorial, Not applicable

Infancy, Neonatal

Isolated angioid streaks

Adult, Elderly

Isolated aniridia

Autosomal dominant, Not applicable

Neonatal

Isolated ankyloblepharon filiforme adnatum

Autosomal dominant, Not applicable

Infancy, Neonatal

Isolated anogenital granulomatosis

Adolescent, Adult, Childhood, Elderly

Isolated anterior cervical hypertrichosis

Autosomal dominant, Autosomal recessive

Childhood

Isolated arhinencephaly

Infancy, Neonatal

Isolated arrhinia

Not applicable

Antenatal, Neonatal

Isolated asymptomatic elevation of creatine phosphokinase

Autosomal dominant

All ages

Isolated atrial standstill

Autosomal dominant, Not applicable

Adult

Isolated autosomal dominant hypomagnesemia, Glaudemans type

Autosomal dominant

Infancy, Neonatal

Isolated bilateral hemispheric cerebellar hypoplasia

Infancy, Neonatal

Isolated biliary atresia

Multigenic/multifactorial

Antenatal, Infancy, Neonatal

Isolated bone marrow mastocytosis

Autosomal dominant, Unknown

Isolated cerebellar agenesis

Childhood