Rare Disease Library

Ataxia-hypogonadism-choroidal dystrophy syndrome

Boucher-Neuhäuser syndrome

Ascher syndrome

Blepharochalasis-double lip syndrome

Becker nevus syndrome

Pigmented hairy epidermal naevus · Becker naevus syndrome

Bohring-Opitz syndrome

BOS syndrome · Bohring syndrome

BOR syndrome

Branchiootorenal syndrome · Branchiootorenal spectrum disorder

Bowen syndrome

Brachymorphism-onychodysplasia-dysphalangism syndrome

BOD syndrome · Senior syndrome

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

Fraser syndrome

Cryptophthalmos-syndactyly syndrome

Guttmacher syndrome

Preaxial deficiency-postaxial polydactyly-hypospadias syndrome

Maxillonasal dysplasia

Binder syndrome · Maxillonasal dysostosis

Megalocornea-intellectual disability syndrome

MMR syndrome · Neuhäuser syndrome

Miller Fisher syndrome

Cranial variant of GBS · Cranial variant of Guillain-Barré syndrome

N syndrome

Nager syndrome

Mandibulofacial dysostosis with preaxial limb anomalies · NAFD

Nelson syndrome

NESCAV syndrome

Neurodegeneration-spasticity-cerebellar atrophy-cortical visual impairment syndrome

Netherton syndrome

Bamboo hair syndrome · Comèl-Netherton syndrome

Neu-Laxova syndrome

Neuhauser-Eichner-Opitz syndrome

Recurrent encephalophathy of childhood

Neurogenic scapuloperoneal syndrome, Kaeser type

Kaeser syndrome · Stark-Kaeser syndrome

NEVADA syndrome

Nevus epidermicus verrucosus with angiodysplasia and aneurysms

Nevo syndrome

Cerebral gigantism, Nevo type

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

Tremor-nystagmus-duodenal ulcer syndrome

Neuhauser-Daly-Magnelli syndrome

Tricho-retino-dento-digital syndrome

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

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH