Rare Disease Library

Pollitt syndrome

Trichorrhexis nodosa syndrome · Trichothiodystrophy type C

ALDH18A1-related De Barsy syndrome

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

Beta-thalassemia-trichothiodystrophy syndrome

BIDS syndrome

Amish brittle hair syndrome · Trichothiodystrophy type D

Brittle hair syndrome, Sabinas type

Brittle hair-mental deficiency syndrome · Trichothiodystrophy type B

Gastrocutaneous syndrome

IBIDS syndrome

Tay syndrome · Trichothiodystrophy type E

Neurocutaneous syndrome with epilepsy

Onycho-tricho-dysplasia-neutropenia syndrome

Itin syndrome · ONMR syndrome

PIBIDS syndrome

Trichothiodystrophy type F · Trichothiodystrophy-sun sensitivity syndrome

SIBIDS syndrome

Trichothiodystrophy-osteosclerosis syndrome

Trichothiodystrophy