Isolated Dandy-Walker malformation

Multigenic/multifactorial

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 agenesis of gallbladder

Not applicable

All ages

Isolated amyelia

Infancy, Neonatal

Isolated anal canal duplication

Childhood

Isolated anencephaly/exencephaly

Multigenic/multifactorial, Not applicable

Infancy, Neonatal

Isolated aniridia

Autosomal dominant, Not applicable

Neonatal

Isolated ankyloblepharon filiforme adnatum

Autosomal dominant, Not applicable

Infancy, Neonatal

Isolated arhinencephaly

Infancy, Neonatal

Isolated bilateral hemispheric cerebellar hypoplasia

Infancy, Neonatal

Isolated biliary atresia

Multigenic/multifactorial

Antenatal, Infancy, Neonatal

Isolated cerebellar agenesis

Childhood

Isolated cerebellar vermis agenesis

Infancy, Neonatal

Isolated cleft lip

Multigenic/multifactorial

Infancy, Neonatal

Isolated colonic duplication

Not applicable

Isolated congenital breast hypoplasia/aplasia

Autosomal recessive

Isolated congenital cholesteatoma of the middle ear

Unknown

Isolated congenital hypoglossia/aglossia

Infancy, Neonatal

Isolated congenital megalocornea

X-linked recessive

Isolated congenital sclerocornea

Autosomal dominant

Isolated corpus callosum agenesis

Not applicable

Antenatal

Isolated cryptophthalmia

Autosomal dominant, Autosomal recessive

Antenatal, Neonatal