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Rachischisis
Radiodigitofacial Dysplasia
Radioreno-Ocular Syndrome
Ramer Ladda Syndrome (Brachydactyly Deafness Skeletal Anomalies)
Ramon Syndrome (Cherubism Gingival Fibromatosis Mental Retardation)
Ramos Arroyo Clark Syndrome (Corneal Anesthesia Deafness Mental Retardation)
Rapp Hodgkin Syndrome (Ectodermal Dysplasia, Anhidrotic, with Cleft Lip and Cleft Palate)
Reardon Wilson Cavanagh Syndrome (Ataxia and Deafness, Reardon Type; A taxia-D eafness-R etardation [ADR ] Syndrome)
Red Hair Color (Hair Color 2)
Refsum Disease (Hereditary Motor and Sensory Neuropathy, Type IV; Heredopathia Atactica Polyneuritiformis; Phytanic Acid Oxidase Deficiency)
Reginato Schiapachasse Syndrome (Cranioosteoarthropathy)
Reifenstein Syndrome (Androgen Insensitivity Syndrome, Partial; Gilbert Dreyfus Syndrome; Lubs Syndrome; Rosewater Syndrome; Type I Familial Incomplete Male Pseudohermaphroditism)
Renal Agenesis
Bilateral (Urogenital Adysplasia, Hereditary)
Renal Dysplasia-Limb Defects Syndrome
R enal-E ar-A nal-R adial [REAR ] SyndromeRenal Tubular Acidosis
Renpenning Syndrome (Mental Retardation, X-Linked, Syndromic 8)
Retinitis Pigmentosa
Retraction Syndrome
Rett Disorder/Syndrome
Reynolds Neri Hermann Syndrome
Rhizomelic Chondrodysplasia Punctata
Richards Rundle Syndrome (Ataxia-Deafness-Retardation Syndrome with Ketoaciduria)
Richieri Costa Guion Almeida Rodini Syndrome
Richieri Costa Montagnoli Syndrome
Richner-Hanhart Syndrome
Rieger Syndrome
Type 1 (Iridogoniodysgenesis with Somatic Anomalies)
Riley Day Syndrome (Familial Dysautonomia, Hereditary Sensory and Autonomic Neuropathy III)
Riley Smith Syndrome
Richieri Costa Colletto Otto Syndrome (Brachydactyly Small Stature Face Anomalies)
Ritscher Schinzel Syndrome (3c Syndrome, Craniocerebellocardiac Dysplasia)
RL Syndrome
Roberts(-SC Phocomelia) Syndrome (Appelt-Gerken-Lenz Syndrome; Cleft Lip and Palate, Tetraphocomelia; SC Phocomelia Syndrome)
Robinow Syndrome
Robinow-Sorauf Syndrome
Rodini Richieri Costa Syndrome (Blepharoptosis Cleft Palate Ectrodactyly Dental Anomalies)
Rokitansky's Disease
Rokitansky Kuster (Hauser) Syndrome
Rolland Desbuquois Syndrome
Romano Ward Syndrome
Rosenberg Lohr Syndrome (Ulna Metaphyseal Dysplasia Syndrome)
Rosenthal Kloepfr Syndrome (Acromegaloid Changes Cutis Verticis Gyrata Corneal Leukoma)
Rosewater Syndrome
Rosselli-Gulienetti Syndrome
Rotor('s) Syndrome
Roussy Levy Syndrome (Roussy Levy Hereditary Areflexic Dystasia)
Rozin Hertz Goodman Syndrome (Camptodactyly with Joint Contractures and Facial Skeletal Defects)
Rubinstein (Taybi) Syndrome (RTS)
Rud Syndrome (RUDS)
Rudd Klimek Syndrome (Caudal Dysgenesis, Familial Type)
Russell (Silver) Syndrome
Russell Weaver Bull Syndrome (Axial Mesodermal Dysplasia Spectrum, Blastogenesis Defect)
Rutland Ciliary Discoordination Syndrome
Rutledge Lethal Multiple Congenital Anomaly Syndrome (Lethal Acrodysgenital Syndrome; Polydactyly with Sex Reversal, Renal Hypoplasia and Unilobular Lung; S mith L emli O pitz [SLO ] Syndrome, Type II)
Ruvalcaba Myhre Smith Syndrome
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