SE-ATLAS

Refsum disease Noonan syndrome Rett syndrome Uniparental disomy of chromosome 15 Fragile X syndrome Uniparental disomy of chromosome 14 Huntington disease Kabuki syndrome Retinitis pigmentosa Feingold syndrome Congenital limb malformation KBG syndrome Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy Muscular dystrophy Hereditary spastic paraplegia Silver-Russell syndrome Temple syndrome Coffin-Siris syndrome Epilepsy syndrome Alström syndrome Witteveen-Kolk syndrome Cornelia de Lange syndrome Angelman syndrome Wiedemann-Steiner syndrome External auditory canal atresia-vertical talus-hypertelorism syndrome Cone rod dystrophy Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome Fibrodysplasia ossificans progressiva Rare genetic epilepsy Hereditary ataxia Autosomal dominant cerebellar ataxia Prader-Willi syndrome Autosomal dominant Charcot-Marie-Tooth disease type 2 Primary bone dysplasia Dejerine-Sottas syndrome Hereditary motor and sensory neuropathy type 5 Rare epilepsy Uniparental disomy of chromosome 7 Beckwith-Wiedemann syndrome Costello syndrome