Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency

Autosomal recessive

Adult

Adult-onset nemaline myopathy

Not applicable

Adult

Adult-onset progressive leukoencephalopathy-early-onset deafness

Autosomal recessive

Adult

African tick typhus

Not applicable

African trypanosomiasis

Not applicable

All ages

Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome

Autosomal recessive

Agammaglobulinemia-skin involvement-failure to thrive syndrome

Autosomal recessive

Aggressive NK-cell leukemia

Multigenic/multifactorial, Not applicable

Adult

Aggressive periodontitis

Autosomal recessive

Adolescent

Aggressive systemic mastocytosis

Not applicable

Adult, Antenatal, Elderly, 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

Alexander disease

Autosomal dominant

All ages

Alkaline ceramidase 3 deficiency

Autosomal recessive

Infancy

Alkaptonuria

Autosomal recessive

Adult, Infancy

Allan-Herndon-Dudley syndrome

X-linked recessive

Antenatal, Infancy, Neonatal

Allergic bronchopulmonary aspergillosis

Not applicable

Childhood

Alopecia antibody deficiency

Unknown

Childhood, Infancy

Alopecia totalis

Multigenic/multifactorial

All ages

Alopecia universalis

Autosomal recessive, Multigenic/multifactorial

All ages

Alopecia-epilepsy-pyorrhea-intellectual disability syndrome

Autosomal dominant

Neonatal

Alopecia-intellectual disability syndrome

Autosomal recessive

Neonatal