Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome

Autosomal recessive

Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome

Autosomal recessive

Antenatal, Infancy, Neonatal

Agammaglobulinemia-skin involvement-failure to thrive syndrome

Autosomal recessive

Aggressive B-cell non-Hodgkin lymphoma

Adult

Aggressive NK-cell leukemia

Multigenic/multifactorial, Not applicable

Adult

Aggressive periodontitis

Autosomal recessive

Adolescent

Aggressive systemic mastocytosis

Not applicable

Adult, Antenatal, Elderly, Neonatal

Agnathia-holoprosencephaly-situs inversus syndrome

Autosomal dominant, Autosomal recessive, Not applicable

Antenatal, Neonatal

Aicardi syndrome

X-linked dominant

Neonatal

Aicardi-Goutières syndrome

Autosomal dominant, Autosomal recessive

Antenatal, Infancy, Neonatal

Airway infantile hemangioma

Not applicable

Infancy

Alacrimia-choreoathetosis-liver dysfunction syndrome

Autosomal recessive

Infancy, Neonatal

Alagille syndrome

Autosomal dominant

All ages

Alagille syndrome due to 20p12 microdeletion

Not applicable

Alagille syndrome due to a JAG1 point mutation

Autosomal dominant

Alagille syndrome due to a NOTCH2 point mutation

Autosomal dominant

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

Alexander disease

Autosomal dominant

All ages

Alexander disease type I

Not applicable

Infancy, Neonatal

Alexander disease type II

Autosomal dominant

Adolescent, Adult, Childhood