SE-ATLAS

Primary hyperoxaluria type 2 Primary hyperoxaluria type 1 Xanthinuria type I Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 Primary hyperoxaluria type 3 Xanthinuria type II Angelman syndrome due to paternal uniparental disomy of chromosome 15 Angelman syndrome due to maternal 15q11q13 deletion Autosomal recessive polycystic kidney disease Autosomal dominant tubulointerstitial kidney disease Rare developmental defect during embryogenesis Rare sucking/swallowing disorder Orofaciodigital syndrome type 5 Karyomegalic interstitial nephritis Hereditary xanthinuria Beckwith-Wiedemann syndrome due to 11p15 microduplication Senior-Boichis syndrome Beckwith-Wiedemann syndrome due to NSD1 mutation Joubert syndrome Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 Angelman syndrome Beckwith-Wiedemann syndrome due to CDKN1C mutation Adult familial nephronophthisis-spastic quadriparesia syndrome Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion RHYNS syndrome Beckwith-Wiedemann syndrome due to 11p15 microdeletion Apert syndrome Rare neoplastic disease Silver-Russell syndrome due to 7p11.2p13 microduplication Rare urogenital disease Silver-Russell syndrome due to an imprinting defect of 11p15 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 Silver-Russell syndrome due to 11p15 microduplication Orofaciodigital syndrome Prune belly syndrome Orofaciodigital syndrome type 11 Rare otorhinolaryngologic disease Nephronophthisis Congenital central hypoventilation syndrome Familial juvenile hyperuricemic nephropathy type 1 Beckwith-Wiedemann syndrome Orofaciodigital syndrome type 9 Hepatic fibrosis-renal cysts-intellectual disability syndrome Tuberous sclerosis complex Silver-Russell syndrome Rare maxillo-facial surgical disease Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Joubert syndrome with oculorenal defect Fraser syndrome Primary hyperoxaluria Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome Silver-Russell syndrome due to a point mutation Meckel syndrome Senior-Loken syndrome Angelman syndrome due to imprinting defect in 15q11-q13 Adenine phosphoribosyltransferase deficiency MUC1-related autosomal dominant tubulointerstitial kidney disease Orofaciodigital syndrome type 1 Orofaciodigital syndrome type 2 Genetic cystic renal disease Angelman syndrome due to a point mutation UMOD-related autosomal dominant tubulointerstitial kidney disease Orofaciodigital syndrome type 3 Orofaciodigital syndrome type 4 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 Late-onset nephronophthisis Orofaciodigital syndrome type 6 Orofaciodigital syndrome type 13 Orofaciodigital syndrome type 8 Orofaciodigital syndrome type 12 Infantile nephronophthisis Juvenile nephronophthisis Orofaciodigital syndrome type 10