SE-ATLAS

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