RELA fusion-positive ependymoma

Adolescent, Adult, Childhood, Infancy

REN-related autosomal dominant tubulointerstitial kidney disease

Autosomal dominant

Adolescent, Adult, Childhood, Infancy

RERE-related neurodevelopmental syndrome

Autosomal dominant

Antenatal, Neonatal

RFT1-CDG

Autosomal recessive

Infancy, Neonatal

RFVT2-related riboflavin transporter deficiency

Autosomal recessive

Childhood, Infancy

RFVT3-related riboflavin transporter deficiency

Autosomal recessive

Adolescent, Adult, Childhood, Infancy

RHYNS syndrome

Autosomal recessive

Antenatal, Infancy, Neonatal

RIDDLE syndrome

Autosomal recessive

Adolescent, Infancy

RIN2 syndrome

Autosomal recessive

Infancy, Neonatal

RNASEH2B-related hereditary spastic paraplegia

Autosomal recessive

Infancy, Neonatal

RNF13-related severe early-onset epileptic encephalopathy

Autosomal dominant

Neonatal

RNU4-2-related autosomal dominant neurodevelopmental disorder

Autosomal dominant

Antenatal, Neonatal

Rabies

Not applicable

All ages

Rabson-Mendenhall syndrome

Autosomal recessive

Antenatal, Childhood, Infancy, Neonatal

Radial deficiency-tibial hypoplasia syndrome

Antenatal

Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome

Neonatal

Radial ray hypoplasia-choanal atresia syndrome

Autosomal dominant

Infancy, Neonatal

Radiation proctitis

Not applicable

Adult

Radio-renal syndrome

Neonatal

Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome

Autosomal dominant

Neonatal

Radioulnar synostosis-developmental delay-hypotonia syndrome

Unknown

Neonatal

Radioulnar synostosis-microcephaly-scoliosis syndrome

Unknown

Antenatal, Neonatal

Ramon syndrome

Autosomal recessive

Infancy

Ramos-Arroyo syndrome

Autosomal dominant

Infancy, Neonatal