Rare Disease Library

Birt-Hogg-Dubé syndrome

Hornstein-Knickenberg syndrome

Brachydactyly-elbow wrist dysplasia syndrome

Brachydactyly-joint dysplasia syndrome · Liebenberg syndrome

Epstein syndrome

Alport syndrome with macrothrombocytopenia

Lichtenstein syndrome

Progressive autosomal recessive ataxia-deafness syndrome

Lichtenstein-Knorr syndrome · Progressive autosomal recessive ataxia-sensorineural hearing loss syndrome