SE-ATLAS

Refsum disease Rett syndrome Uniparental disomy of chromosome 15 Uniparental disomy of chromosome 14 Kabuki syndrome Feingold syndrome Congenital limb malformation KBG syndrome Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy Muscular dystrophy Hereditary spastic paraplegia Temple syndrome Coffin-Siris syndrome Epilepsy syndrome Alström syndrome Witteveen-Kolk 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 Autosomal dominant cerebellar ataxia 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 Costello syndrome Noonan syndrome Fragile X syndrome Huntington disease Silver-Russell syndrome Cornelia de Lange syndrome Angelman syndrome Hereditary ataxia Prader-Willi syndrome Beckwith-Wiedemann syndrome Retinitis pigmentosa Marfan syndrome Ehlers-Danlos syndrome RASopathy