Syndromic NS | DGKE | Atypical Hemolytic Uremic Syndrome | AR | 615008 |
Syndromic NS | LCAT | Norum disease (classical familial lecithin:cholesterol acyltransferase deficiency) | AR | 245900 |
Syndromic NS | PODXL | Congenital omphalocele | AR | 602632 |
Syndromic NS | MAFB | Multicentric carpotarsal osteolysis | AD | 166300 |
Syndromic NS | SMARCAL1 | Schimke immuno-osseous dysplasia | AR | 242900 |
Syndromic NS | PAX2 | Papillorenal syndrome | AD | 120330 |
Syndromic NS | INF2 | Autosomal dominant intermediate Charcot-Marie-Tooth diseaes type E | AD | 614455 |
Syndromic NS | LMX1B | Nail-patella syndrome | AD | 161200 |
Syndromic NS | MYH9 | MYH9-related disease (macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss - Epstein syndrome, Fechtner syndrom) | AD | 155100 |
Syndromic NS | MT-TL1 | MELAS syndrome | Mitochondrial | 540000 |
Syndromic NS | NUP107 | Galloway-Mowat syndrome 7 | AR | 618349, 619603 |
Syndromic NS | TP53RK | Galloway-Mowat syndrome 4 | AR | 617730 |
Syndromic NS | PDSS2 | CoQ10 deficiency | AR | 610546 |
Syndromic NS | COQ8 | Coenzyme Q10 deficiency (encephalopathy; deafness; Leigh syndrome) | AR | 612016 |
Syndromic NS | COQ6 | Coenzyme Q10 deficiency (encephalopathy; deafness; Leigh syndrome) | AR | 614650 |
Syndromic NS | COQ2 | Coenzyme Q10 deficiency (encephalopathy; deafness; Leigh syndrome) | AR | 607426 |
Syndromic NS | - | - | - | - |