Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome

Unknown

Childhood, Infancy

Rapid-onset dystonia-parkinsonism

Autosomal dominant, Not applicable

Adolescent, Adult, Childhood

Rapidly involuting congenital hemangioma

Not applicable

Antenatal

Rare adenocarcinoma of the breast

Adult

Rare isolated myopia

Autosomal dominant, Autosomal recessive

Rare non-syndromic genetic deafness

Autosomal dominant, Autosomal recessive, X-linked recessive

Infancy, Neonatal

Rare non-syndromic intellectual disability

Autosomal dominant, Autosomal recessive, X-linked dominant, X-linked recessive

Childhood, Infancy

Rasmussen subacute encephalitis

Not applicable

Childhood

Rat-bite fever

All ages

Ravine syndrome

Autosomal recessive

Infancy

Reactive arthritis

Multigenic/multifactorial, Not applicable

Adolescent, Adult, Elderly

Recessive X-linked ichthyosis

X-linked recessive

Neonatal

Recessive dystrophic epidermolysis bullosa inversa

Autosomal recessive

Infancy, Neonatal

Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome

Autosomal recessive

Infancy, Neonatal

Recessive mitochondrial ataxia syndrome

Autosomal recessive

Adolescent, Childhood

Recurrent Neisseria infections due to factor D deficiency

Autosomal recessive

Recurrent infections associated with rare immunoglobulin isotypes deficiency

Unknown

Childhood

Recurrent infections due to specific granule deficiency

Autosomal recessive

Infancy, Neonatal

Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome

Autosomal recessive

Infancy

Recurrent respiratory papillomatosis

Not applicable

Adolescent, Adult, Childhood, Infancy

Reducing body myopathy

Not applicable, X-linked dominant

Adult, Childhood, Infancy

Refractory anemia with excess blasts in transformation

Adolescent, Adult, Elderly

Refractory celiac disease

Not applicable

All ages

Regional odontodysplasia

Not applicable

Childhood