Rare Disease Library

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome

Achalasia-microcephaly syndrome

Ectodermal dysplasia syndrome

Ectodermal dysplasia

Epilepsy-microcephaly-skeletal dysplasia syndrome

Battaglia-Neri syndrome

Ghosal hematodiaphyseal dysplasia

Diaphyseal dysplasia-anemia syndrome · Ghosal syndrome

Growth delay-hydrocephaly-lung hypoplasia syndrome

Game-Friedman-Paradice syndrome

Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome

Ferlini-Ragno-Calzolari syndrome · Waaler-Aarskog syndrome

Lowry-Wood syndrome

Epiphyseal dysplasia-microcephaly-nystagmus syndrome

Senior-Loken syndrome

Nephronophthisis with retinal dystrophy · Renal dysplasia-retinal aplasia syndrome

Thoracic dysplasia-hydrocephalus syndrome

Ulbright-Hodes syndrome

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