Rare Disease Library

External auditory canal atresia-vertical talus-hypertelorism syndrome

Rasmussen-Johnsen-Thomsen syndrome

Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome

Johnson-Munson syndrome

Deaf blind hypopigmentation syndrome, Yemenite type

Warburg-Thomsen syndrome · Yemenite deaf-blind hypopigmentation syndrome

Deafness-opticoacoustic nerve atrophy-dementia syndrome

Jensen syndrome · hearing loss-opticoacoustic nerve atrophy-dementia syndrome

Dubin-Johnson syndrome

Dubin-Sprinz disease · Hyperbilirubinemia type 2

Microphthalmia-microtia-fetal akinesia syndrome

Thomas-Jewett-Raines syndrome

Rasmussen subacute encephalitis

Rasmussen syndrome

Rothmund-Thomson syndrome

Poikiloderma of Rothmund-Thomson · RTS

Thomas syndrome

Potter sequence-cleft lip/palate-cardiopathy syndrome

X-linked intellectual disability-macrocephaly-macroorchidism syndrome

Johnson syndrome