Rare Disease Library

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

Rambaud-Gallian syndrome · Rambaud-Gallian-Touchard syndrome

Ruvalcaba syndrome

SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome

Delpire-McNeill syndrome

SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome

Kilquist syndrome

SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome

SLC35A1-CDG

CDG syndrome type IIf · CDG-IIf

SLC35A2-CDG

CDG syndrome type IIm · CDG-IIm

SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome

SCD-EDS · SLC39A13-related spEDS

SLC39A8-CDG

SLC39A8 deficiency · Congenital disorder of glycosylation type IIn

SLC40A1-related hemochromatosis

Solitary rectal ulcer syndrome

Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome

Symmetrical thalamic calcifications

Bilateral symmetrical thalamic gliosis

Tremor-nystagmus-duodenal ulcer syndrome

Neuhauser-Daly-Magnelli syndrome

Umbilical cord ulceration-intestinal atresia syndrome

Visceral calciphylaxis

Wolcott-Rallison syndrome

Early-onset diabetes mellitus with multiple epiphyseal dysplasia · WRS