SE-ATLAS

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