Adult hypophosphatasia

Autosomal dominant, Autosomal recessive

Adult

Adult idiopathic neutropenia

Not applicable

Adult

Adult intestinal botulism

Adult

Adult polyglucosan body disease

Autosomal recessive

Adult

Adult-onset Steinert myotonic dystrophy

Autosomal dominant

Adult

Adult-onset Still disease

Not applicable

Adult, Elderly

Adult-onset autosomal dominant leukodystrophy

Autosomal dominant

Adult

Adult-onset autosomal recessive cerebellar ataxia

Autosomal recessive

Adult

Adult-onset autosomal recessive sideroblastic anemia

Autosomal recessive

Adult

Adult-onset cervical dystonia, DYT23 type

Autosomal dominant

Adult

Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

Autosomal dominant, Mitochondrial inheritance

Adult

Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency

Autosomal recessive

Adult-onset distal myopathy due to VCP mutation

Autosomal dominant

Adult

Adult-onset dystonia-parkinsonism

Autosomal recessive

Adolescent, Adult

Adult-onset foveomacular vitelliform dystrophy

Autosomal dominant, Not applicable

Adult

Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies

Not applicable

Adult

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

Autosomal dominant

Adult

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

Autosomal recessive

Adult

Adult-onset myasthenia gravis

Multigenic/multifactorial, Not applicable

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