Rare Disease Library

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

Rambaud-Gallian syndrome · Rambaud-Gallian-Touchard syndrome

Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation

H1-4-related neurodevelopmental disorder · Rahman syndrome

CLCN4-related X-linked intellectual disability syndrome

Raynaud-Claes syndrome

Epidermolysis bullosa simplex with anodontia/hypodontia

Kallin syndrome · EBS with anodontia/hypodontia

Galloway-Mowat syndrome

Galloway syndrome · Microcephaly-hiatus hernia-nephrotic syndrome

GAPO syndrome

Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome

Gardner syndrome

German syndrome

Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome

GMS syndrome

Goniodysgenesis-intellectual disability-short stature syndrome

Goodman syndrome

ACPS4 · Acrocephalopolysyndactyly type 4

Gorlin-Chaudhry-Moss syndrome

Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome · Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome

Leukocyte adhesion deficiency type II

CDG syndrome type IIc · CDG-IIc

Osteopetrosis with renal tubular acidosis

Carbonic anhydrase 2 deficiency · Guibaud-Vainsel syndrome

Osteosclerotic bone dysplasia

Raine syndrome

Pallister-Killian syndrome

Isochromosome 12p mosaicism · Isochromosome 12p syndrome

Peripheral motor neuropathy-dysautonomia syndrome

Lisker-Garcia-Ramos syndrome

Ramon syndrome

Cherubism-gingival fibromatosis-intellectual disability syndrome

Ramsay Hunt syndrome

Facial nerve palsy due to herpes zoster infection · Facial nerve paralysis due to VZV

Ravine syndrome

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

Ring chromosome 1 syndrome

Ring chromosome 1 · Ring 1

Ring chromosome 4 syndrome

Ring chromosome 4 · Ring 4

Ring chromosome 8 syndrome

Ring chromosome 8 · Ring 8

Roifman syndrome

Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome

Smith-Lemli-Opitz syndrome

7-dehydrocholesterol reductase deficiency · RSH syndrome