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

Rotor syndrome

Autosomal recessive

All ages

Roussy-Lévy syndrome

Autosomal dominant

Childhood, Infancy

Rowell syndrome

Adult

Rubella panencephalitis

Not applicable

Childhood

S-adenosylhomocysteine hydrolase deficiency

Autosomal recessive

Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal

SAMD9L-associated autoinflammatory syndrome

Not applicable

Neonatal

SAPHO syndrome

Multigenic/multifactorial, Not applicable

Adolescent, Adult, Elderly

SCALP syndrome

Not applicable

Neonatal

SCGN-related severe early-onset hereditary ulcerative colitis

Autosomal recessive

SHOX-related short stature

Autosomal dominant

Infancy, Neonatal

SIM1-related Prader-Willi-like syndrome

Autosomal dominant

Antenatal, Infancy, Neonatal

SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome

Autosomal dominant, Autosomal recessive

Adolescent, Childhood, Infancy

SLC35A1-CDG

No data available

Infancy, Neonatal

SLC35A2-CDG

Unknown

Infancy, Neonatal

SLC39A8-CDG

Autosomal recessive

Neonatal