SE-ATLAS

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