Rare Disease Library

Saldino-Mainzer syndrome

Conorenal syndrome · Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome

Cerebellar ataxia-ectodermal dysplasia syndrome

Gómez-López-Hernández syndrome

Cerebellotrigeminal-dermal dysplasia syndrome · Craniosynostosis-alopecia-brain defect syndrome

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome

Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome

Furukawa-Takagi-Nakao syndrome

RHYNS syndrome

Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome

Senior-Loken syndrome

Nephronophthisis with retinal dystrophy · Renal dysplasia-retinal aplasia syndrome

Spinocerebellar ataxia type 7

Ataxia with pigmentary retinopathy · Cerebellar syndrome-pigmentary maculopathy syndrome

Terminal osseous dysplasia-pigmentary defects syndrome

Tricho-retino-dento-digital syndrome

Bork syndrome · Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome