SE-ATLAS

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