SE-ATLAS

Branchioskeletogenital syndrome Meconium aspiration syndrome Allergic bronchopulmonary aspergillosis Tracheobronchopathia osteochondroplastica Bronchiolitis obliterans Renal dysplasia-megalocystis-sirenomelia syndrome Urachal cyst Infectious disease of the nervous system Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome Guttmacher syndrome Congenital diaphragmatic hernia Non-syndromic posterior hypospadias Idiopathic isolated micropenis Prune belly syndrome Syndromic multisystem autoimmune disease due to Itch deficiency Primary ciliary dyskinesia Digestive tract malformation 8p23.1 microdeletion syndrome Diaphragmatic or abdominal wall malformation Rare epilepsy Rare vaginal malformation Diffuse panbronchiolitis 46,XX difference of sex development Czeizel-Losonci syndrome Glomerular disease Sex chromosome difference of sex development Non-syndromic urogenital tract malformation Syndromic urogenital tract malformation Juberg-Marsidi syndrome Double uterus-hemivagina-renal agenesis syndrome Non-syndromic diaphragmatic or abdominal wall malformation CHARGE syndrome Severe acute respiratory syndrome Thrombotic microangiopathy Myopathy-growth delay-intellectual disability-hypospadias syndrome 48,XXYY syndrome Sudden infant death-dysgenesis of the testes syndrome Pulmonary alveolar microlithiasis 46,XX difference of sex development induced by androgens excess Pulmonary nodular lymphoid hyperplasia Intestinal malformation Idiopathic bronchiectasis Genetic cystic renal disease Difference of sex development Subacute sclerosing leukoencephalitis Rett syndrome Niemann-Pick disease type C, severe perinatal form Hypertelorism-hypospadias-polysyndactyly syndrome Non-syndromic urogenital tract malformation of male Penoscrotal transposition 46,XY difference of sex development Interstitial lung disease Non-syndromic uterovaginal malformation Aarskog-Scott syndrome Niemann-Pick disease type C, adult neurologic onset Siegler-Brewer-Carey syndrome Niemann-Pick disease type C, severe early infantile neurologic onset Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome Niemann-Pick disease type C, late infantile neurologic onset Niemann-Pick disease type C, juvenile neurologic onset Abruzzo-Erickson syndrome Esophageal malformation Autosomal recessive faciodigitogenital syndrome Familial hypospadias Posterior urethral valve Infantile apnea Caudal regression syndrome Tracheo-esophageal fistula-hypospadias syndrome Non-syndromic urogenital tract malformation of female Schilbach-Rott syndrome Familial spontaneous pneumothorax Spina bifida-Hypospadie-Syndrom Zystische Fibrose Hämorrhagie, alveoläre diffuse Urogenitale Fehlbildungen, weibliche und männliche, nichtsyndromale Formen Ekstrophie-Epispadie-Komplex Störung der Geschlechtsentwicklung 46,XY, endokrinen Ursprungs Anorektale Fehlbildung Lungenverletzung, akute Seltene Ursache der Hypertension Nierenkrankheit, seltene Turner-Syndrom Radiushypoplasie - triphalangeale Daumen - Hypospadie - Progenie - maxilläres Diastema 48,XYYY-Syndrom 48,XXXY-Syndrom 49,XXXXY-Syndrom Letale hämolytischeAnämie-Genitalfehlbildungen-Syndrom Vas-deferens-Aplasie, bilaterale kongenitale Penisagenesie Urogenitale Fehlbildungen Alpha-1-Antitrypsin-Mangel Alport-Syndrom Atresie des Urethers IMAGE-Syndrom Hypospadie - Intelligenzminderung, Typ Goldblatt Diphallie Urethra-Duplikation Torticollis-Keloide-Kryptoorchidie-Nierendysplasie-Syndrom Dravet-Syndrom Nieren/Harnwegsfehlbildung Pneumonie, nekrotisierende, Staphylokokken-induzierte Young-Syndrom Seltene renal-tubuläre Funktionsstörung Anomalien der unteren Extremitäten-Hypospadie-Syndrom Müller-Gang-Anomalien - Extremitätenanomalien Corpus callosum-Agenesie-Genitalfehlbildung-Syndrom Vesicoureteraler Reflux, familiäre Form Megaureter, kongenitaler primärer Nephrose-Schwerhörigkeit-Harnwegsanomalien-Fingerfehlbildungen-Syndrom Schwannomatose, NF2-assoziierte Papillomatose, rekurrente respiratorische Niemann-Pick-Krankheit Typ C Gastroduodenale Fehlbildung Opitz G/BBB-Syndrom Alpers-Huttenlocher-Syndrom Primäre Ziliendyskinesie - Retinitis pigmentosa