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 Beckwith-Wiedemann syndrome Cornelia de Lange syndrome Rare genetic epilepsy Dejerine-Sottas syndrome Hereditary motor and sensory neuropathy type 5 Kabuki syndrome Feingold syndrome KBG syndrome Fibrodysplasia ossificans progressiva Coffin-Siris syndrome Witteveen-Kolk syndrome Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome Temple syndrome Epilepsy syndrome Noonan syndrome Wiedemann-Steiner syndrome Refsum disease Rett 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 Huntington disease Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy Muscular dystrophy Hereditary spastic paraplegia Silver-Russell syndrome Hereditary ataxia Autosomal dominant cerebellar ataxia Prader-Willi syndrome RASopathy Rare chromosomal anomaly Retinitis pigmentosa Marfan syndrome