Rare Disease Library

Rett syndrome

Revesz syndrome

Dyskeratosis congenita with bilateral exudative retinopathy · Retinopathy-anemia-central nervous system anomalies syndrome

Reye syndrome

Reynolds syndrome

Primary biliary cirrhosis and systemic scleroderma

RHYNS syndrome

Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome

RIN2 syndrome

MACS syndrome · Macrocephaly-alopecia-cutis laxa-scoliosis syndrome

Ring chromosome 1 syndrome

Ring chromosome 1 · Ring 1

Ring chromosome 11 syndrome

RC11 · r(11) syndrome

Ring chromosome 22 syndrome

Ring chromosome 22 · Ring 22

Ring chromosome 4 syndrome

Ring chromosome 4 · Ring 4

Ring chromosome 8 syndrome

Ring chromosome 8 · Ring 8

RNU4-2-related autosomal dominant neurodevelopmental disorder

ReNU syndrome

Rombo syndrome

Rotor syndrome

Hyperbilirubinemia, Rotor type

Serrated polyposis syndrome

Hyperplastic polyposis syndrome

SIM1-related Prader-Willi-like syndrome

SIM1-related PWLS

Smith-Lemli-Opitz syndrome

7-dehydrocholesterol reductase deficiency · RSH syndrome

SPECC1L-related hypertelorism syndrome

Brachycephalofrontonasal dysplasia · Teebi hypertelorism syndrome

Tatton-Brown-Rahman syndrome

DNMT3A-related overgrowth syndrome · Tatton-Brown-Rahman overgrowth syndrome

Tetraamelia-multiple malformations syndrome

Zimmer phocomelia · PAPPAS

Townes-Brocks syndrome

Sensorineural hearing loss with imperforate anus and hypoplastic thumbs · REAR syndrome

Trisomy 13 syndrome

Patau syndrome

W syndrome

Pallister-W syndrome

Weaver syndrome

EZH2-related overgrowth syndrome · Syndrome d'hypercroissance associé à EZH2