Rare Disease Library

Senior-Loken syndrome

Nephronophthisis with retinal dystrophy · Renal dysplasia-retinal aplasia syndrome

Short stature-craniofacial anomalies-genital hypoplasia syndrome

Haspeslagh-Fryns-Muelenaere syndrome

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

SOFT syndrome

Skeletal dysplasia-epilepsy-short stature syndrome

Gurrieri-Sammito-Bellussi syndrome

Spondyloperipheral dysplasia-short ulna syndrome

Subaortic stenosis-short stature syndrome

Onat syndrome

Trichodysplasia-xeroderma syndrome

Ulbright-Hodes syndrome

Renal dysplasia-limb defects syndrome · Renal dysplasia-mesomelia-radiohumeral fusion syndrome

Upington disease

Hip dysplasia-enchondromata-ecchondroma syndrome

X-linked corneal dermoid

Corneal dystrophy epithelial-short stature syndrome · Guízar Vázquez-Luengas-Muñoz syndrome