Rare Disease Library

Deaf blind hypopigmentation syndrome, Yemenite type

Warburg-Thomsen syndrome · Yemenite deaf-blind hypopigmentation syndrome

Griscelli syndrome type 1

Griscelli-Pruniéras syndrome type 1 · Hypopigmentation-neurologic impairment syndrome

Hyperkeratosis-hyperpigmentation syndrome

Hypopigmentation-punctate palmoplantar keratoderma syndrome

Cole disease · Guttate hypopigmentation and punctate palmoplantar keratoderma

Oculocerebral hypopigmentation syndrome, Cross type

Cross syndrome

Oculocerebral hypopigmentation syndrome, Preus type

Osteoporosis-oculocutaneous hypopigmentation syndrome

Hernández-Fragoso syndrome · OOCHS

Tietz syndrome

Hypopigmentation-deafness syndrome · Hypopigmentation-hearing loss syndrome