Retinal macular dystrophy type 2

Autosomal dominant

Adolescent, Adult

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

Autosomal dominant

Adult, Elderly

Retinitis pigmentosa

Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, X-linked recessive

Adolescent, Adult, Childhood

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

Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome

Autosomal recessive

Childhood

Retinitis punctata albescens

Autosomal dominant, Autosomal recessive

Childhood

Retinoblastoma

Autosomal dominant, Not applicable

Antenatal, Childhood, Infancy

Retinopathy of prematurity

Not applicable

Infancy, Neonatal

Retroperitoneal arteriovenous malformation

Not applicable

Rett syndrome

X-linked dominant

Infancy

Reversible cerebral vasoconstriction syndrome

Not applicable

Adult

Revesz syndrome

Autosomal dominant

Childhood, Infancy

Reye syndrome

Adolescent, Adult, Childhood, Infancy

Reynolds syndrome

Not applicable

Adult

Rh deficiency syndrome

Autosomal recessive

No data available

Rhabdoid tumor

Not applicable

Antenatal, Childhood, Infancy, Neonatal

Rhabdoid tumor predisposition syndrome

Autosomal dominant

Childhood

Rhabdomyosarcoma

Multigenic/multifactorial

Childhood

Rhabdomyosarcoma of the cervix uteri

Adolescent, Adult, Childhood

Rheumatic fever

Not applicable

Childhood

Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis

Multigenic/multifactorial

Childhood

Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis

Unknown

Childhood

Rhizomelic chondrodysplasia punctata

Autosomal recessive

Antenatal, Neonatal