Rare Disease Library

PYCR1-related De Barsy syndrome

PYCR1 deficiency · Pyrroline-5-carboxylate reductase 1 deficiency

Radio-renal syndrome

Ramon syndrome

Cherubism-gingival fibromatosis-intellectual disability syndrome

Ravine syndrome

Progressive encephalopathy with severe infantile anorexia · Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome

Recombinant 8 syndrome

Duplication 8q/deletion 8p · Rec(8) syndrome

Renpenning syndrome

X-linked intellectual disability due to PQBP1 mutations · X-linked intellectual disability, Renpenning type

RERE-related neurodevelopmental syndrome

Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome

ROSAH syndrome · Optic nerve edema-splenomegaly syndrome

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

Rh deficiency syndrome

Rh-null syndrome

RHYNS syndrome

Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome

RIDDLE syndrome

RNF168 deficiency · Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties 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

Rowell syndrome

Schuurs-Hoeijmakers syndrome

PACS1-NDD · PACS1-neurodevelopmental disorder

Seizures-scoliosis-macrocephaly syndrome

SSM syndrome

Semicircular canal dehiscence syndrome

SCD syndrome

Severe dermatitis-multiple allergies-metabolic wasting syndrome

Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome · SAM 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

SYNGAP1-related developmental and epileptic encephalopathy

SYNGAP1-related DEE

Tatton-Brown-Rahman syndrome

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

Thiamine-responsive megaloblastic anemia syndrome

Rogers syndrome · TRMA

Townes-Brocks syndrome

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

Triple A syndrome

2A syndrome · 3A syndrome

W syndrome

Pallister-W syndrome

Weaver syndrome

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

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

X-linked intellectual disability-retinitis pigmentosa syndrome

Aldred syndrome · Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome