Rare Disease Library

Simpson-Golabi-Behmel syndrome

DGSX · Golabi-Rosen syndrome

Bartter syndrome type 1

Bartter syndrome type I

Feingold syndrome type 1

Brunner-Winter syndrome type 1 · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1

FG syndrome type 1

Opitz-Kaveggia syndrome

Griscelli syndrome type 1

Griscelli-Pruniéras syndrome type 1 · Hypopigmentation-neurologic impairment syndrome

Marfan syndrome type 1

MFS1

Mayer-Rokitansky-Küster-Hauser syndrome type 1

Congenital absence of uterus and vagina · MRKH syndrome type 1

Monosomy 18p syndrome

18p- syndrome · De Grouchy syndrome type 1

NPHP3-related Meckel-like syndrome

Goldston syndrome · Meckel syndrome type 7

Rothmund-Thomson syndrome type 1

Poikiloderma of Rothmund-Thomson type 1 · RTS1

Simpson-Golabi-Behmel syndrome type 2

Lethal variant of Simpson-Golabi-Behmel syndrome · SGBS2

Stickler syndrome type 1

Timothy syndrome type 1

TS1 · LQT8 type 1

Usher syndrome type 1

USH1