Rare Disease Library

ALDH18A1-related De Barsy syndrome

Delta-1-pyrroline 5-carboxylate synthetase deficiency · Neurocutaneous syndrome, Bicknell type

Brooke-Spiegler syndrome

CYLD cutaneous syndrome

Cardiofaciocutaneous syndrome

CFC syndrome

Gastrocutaneous syndrome

Kawasaki disease

Mucocutaneous lymph node syndrome

Neurocutaneous syndrome with epilepsy

Oculocerebrocutaneous syndrome

Delleman syndrome · Delleman-Oorthuys syndrome

Oculoosteocutaneous syndrome

Pollitt syndrome

Trichorrhexis nodosa syndrome · Trichothiodystrophy type C