Rare Disease Library

Rotor syndrome

Hyperbilirubinemia, Rotor type

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

Smith-Lemli-Opitz syndrome

7-dehydrocholesterol reductase deficiency · RSH syndrome

Syndromic aniridia

Syndromic cataract

Syndromic epicanthus

Syndromic hyperopia

Syndromic keratoconus

Syndromic nail anomaly

Syndromic obesity

Syndromic telecanthus

Townes-Brocks syndrome

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

Trichohepatoenteric syndrome

Syndromic diarrhea · Phenotypic diarrhea

Triple A syndrome

2A syndrome · 3A syndrome

W syndrome

Pallister-W syndrome

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome