SE-ATLAS

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