Rare Disease Library

Corneodermatoosseous syndrome

CDO syndrome · Stern-Lubinsky-Durrie syndrome

Aymé-Gripp syndrome

Brachycephaly-hearing loss-cataract-intellectual disability syndrome · Fine-Lubinsky syndrome

Dursun syndrome

Pulmonary arterial hypertension-leukopenia-atrial septal defect syndrome

Hypergonadotropic hypogonadism-cataract syndrome

Lubinsky syndrome

Keppen-Lubinsky syndrome

Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome

Prune belly syndrome

Abdominal muscle deficiency syndrome · Eagle-Barret syndrome

X-linked dystonia-parkinsonism

DYT3 · Lubag