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-hypospadias syndrome Cystic fibrosis Diffuse alveolar hemorrhage Non-syndromic urogenital tract malformation of male and female Exstrophy-epispadias complex 46,XY difference of sex development of endocrine origin Anorectal malformation Acute lung injury Rare cause of hypertension Rare renal disease Turner syndrome Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome 48,XYYY syndrome 48,XXXY syndrome 49,XXXXY syndrome Lethal hemolytic anemia-genital anomalies syndrome Congenital bilateral absence of vas deferens Penile agenesis Urogenital tract malformation Alpha-1-antitrypsin deficiency Alport syndrome Atresia of urethra IMAGe syndrome Hypospadias-intellectual disability, Goldblatt type syndrome Diphallia Duplication of urethra Torticollis-keloids-cryptorchidism-renal dysplasia syndrome Dravet syndrome Renal or urinary tract malformation Staphylococcal necrotizing pneumonia Young syndrome Rare renal tubular disease Lower limb malformation-hypospadias syndrome Müllerian duct anomalies-limb anomalies syndrome Corpus callosum agenesis-abnormal genitalia syndrome Familial vesicoureteral reflux Congenital primary megaureter Nephrosis-deafness-urinary tract-digital malformations syndrome Full NF2-related schwannomatosis Recurrent respiratory papillomatosis Niemann-Pick disease type C Gastroduodenal malformation Opitz GBBB syndrome Alpers-Huttenlocher syndrome Primary ciliary dyskinesia-retinitis pigmentosa syndrome