Acrootoocular syndrome

Autosomal recessive

Infancy, Neonatal

Acropectoral syndrome

Autosomal dominant

Infancy, Neonatal

Acropectorovertebral dysplasia

Autosomal dominant

Antenatal, Neonatal

Acrorenal syndrome

Autosomal recessive

Neonatal

Adams-Oliver syndrome

Autosomal dominant, Autosomal recessive

Antenatal, Neonatal

Adducted thumbs-arthrogryposis syndrome, Christian type

Autosomal recessive

Neonatal

Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome

Autosomal recessive

Antenatal, Infancy, Neonatal

Agnathia-holoprosencephaly-situs inversus syndrome

Autosomal dominant, Autosomal recessive, Not applicable

Antenatal, Neonatal

Alagille syndrome

Autosomal dominant

All ages

Alar cartilages hypoplasia-coloboma-telecanthus syndrome

Autosomal recessive

Neonatal

Alazami syndrome

Autosomal recessive

Antenatal, Neonatal

Alazami-Yuan syndrome

Autosomal recessive

Albers-Schönberg osteopetrosis

Autosomal dominant

Childhood

Albinism-deafness syndrome

X-linked recessive

Neonatal

Alopecia-contractures-dwarfism-intellectual disability syndrome

Autosomal recessive

Antenatal, Neonatal

Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16

Not applicable, Unknown

Infancy, Neonatal

Amelo-onycho-hypohidrotic syndrome

No data available

Amelocerebrohypohidrotic syndrome

Autosomal recessive

Childhood, Infancy, Neonatal

Aminopterin/methotrexate embryofetopathy

Not applicable

Antenatal, Neonatal

Amish lethal microcephaly

Autosomal recessive

Antenatal, Infancy, Neonatal

Amniotic band syndrome

Antenatal, Neonatal

Angel-shaped phalango-epiphyseal dysplasia

Autosomal dominant

All ages

Angelman syndrome

Not applicable

Infancy

Aniridia-absent patella syndrome

Autosomal dominant

Antenatal, Neonatal