Robinow syndrome

Autosomal dominant, Autosomal recessive

Infancy, Neonatal

Roch-Leri mesosomatous lipomatosis

Autosomal dominant

No data available

Rocky Mountain spotted fever

Not applicable

All ages

Roifman syndrome

Autosomal recessive

Antenatal, Neonatal

Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome

Autosomal recessive

Infancy

Rolandic epilepsy-speech dyspraxia syndrome

Autosomal dominant, X-linked dominant

Antenatal, Infancy, Neonatal

Romano-Ward syndrome

Autosomal dominant, Autosomal recessive

All ages

Rombo syndrome

Unknown

Childhood

Rosaï-Dorfman disease

Adolescent, Adult

Rothmund-Thomson syndrome

Autosomal recessive

Infancy, Neonatal

Rothmund-Thomson syndrome type 1

Autosomal recessive

Infancy, Neonatal

Rothmund-Thomson syndrome type 2

Autosomal recessive

Infancy, Neonatal

Rothmund-Thomson syndrome type 3

Autosomal recessive

Rothmund-Thomson syndrome type 4

Autosomal recessive

Rotor syndrome

Autosomal recessive

All ages

Roussy-Lévy syndrome

Autosomal dominant

Childhood, Infancy

Rowell syndrome

Adult

Rubella panencephalitis

Not applicable

Childhood

Rubinstein-Taybi syndrome

Autosomal dominant, Unknown

Antenatal, Neonatal

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

Not applicable

Antenatal, Neonatal

Rubinstein-Taybi syndrome due to CREBBP mutations

Autosomal dominant

Antenatal, Neonatal

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Autosomal dominant

Neonatal

Ruvalcaba syndrome

Unknown

Infancy, Neonatal

S-adenosylhomocysteine hydrolase deficiency

Autosomal recessive

Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal