Retinal degeneration-nanophthalmos-glaucoma syndrome

Autosomal recessive

Adult

Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome

Unknown

Infancy, Neonatal

Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome

Autosomal recessive

Childhood, Infancy

Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome

Autosomal recessive

Childhood

Revesz syndrome

Autosomal dominant

Childhood, Infancy

Rhizomelic dysplasia, Patterson-Lowry type

Childhood, Infancy

Rhizomelic syndrome, Urbach type

Neonatal

Rhombencephalosynapsis

Not applicable

Antenatal, Infancy, Neonatal

Riboflavin transporter deficiency

Autosomal recessive

Adolescent, Adult, Childhood, Infancy

Richards-Rundle syndrome

Autosomal recessive

Infancy

Richieri Costa-Pereira syndrome

Autosomal recessive

Infancy, Neonatal

Richieri Costa-da Silva syndrome

Childhood

Right isomerism

Autosomal recessive

Neonatal

Ring chromosome 1 syndrome

Neonatal

Ring chromosome 10 syndrome

Not applicable, Unknown

Antenatal, Neonatal

Ring chromosome 11 syndrome

Antenatal, Infancy, Neonatal

Ring chromosome 12 syndrome

Infancy, Neonatal

Ring chromosome 13 syndrome

Antenatal, Childhood, Infancy, Neonatal

Ring chromosome 14 syndrome

Not applicable, Unknown

Childhood

Ring chromosome 15 syndrome

Antenatal, Infancy, Neonatal

Ring chromosome 16 syndrome

Antenatal, Infancy, Neonatal

Ring chromosome 17 syndrome

Not applicable, Unknown

Childhood

Ring chromosome 18 syndrome

Antenatal, Infancy, Neonatal

Ring chromosome 19 syndrome

Antenatal