ErkrankungGenitopatellar-Syndrom/SBBYS-Syndrom, Differentialdiagnose

NGS +

• Alias: KAT6B disorder
• Alias: Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome, SBBYSS
• Allelic: Focal segmental glomerulosclerosis 10 (LMX1B)
• Allelic: Hyperphosphatasia with mental retardation syndrome 4 (PGAP3)
• Allelic: Intellectual developmental disorder, XL, syndrome, Snijders Blok type (DDX3X)
• Allelic: Kaufman oculocerebrofacial syndrome (UBE3B)
• Allelic: Lung cancer, susceptibility to (ERCC6)
• Allelic: Macular degeneration, age-related, susceptibility to, 5 (ERCC6)
• Allelic: Macular degeneration, early-onset (FBN2)
• Allelic: Premature ovarian failure (FOXL2)
• Allelic: Premature ovarian failure 11 (ERCC6)
• Allelic: UV-sensitive syndrome 1 (ERCC6)
• Allelic: UV-sensitive syndrome 2 (ERCC8)
• Amelia, posterior, with pelvic + pulmonary hypoplasia syndrome (TBX4)
• Baller-Gerold syndrome (RECQL4)
• Blepharophimosis, epicanthus inversus + ptosis, types 1 + 2 (FOXL2)
• Cerebrooculofacioskeletal syndrome 1 (ERCC6)
• Cockayne syndrome, type A (ERCC8)
• Cockayne syndrome, type B (ERCC6)
• Contractural arachnodactyly, congenital (FBN2)
• De Sanctis-Cacchione syndrome (ERCC6)
• Genitopatellar syndrome (KAT6B)
• Intellectual developmental disorder, AR 5 (NSUN2)
• Ischiocoxopodopatellar syndrome with/-out pulmonary arterial hypertension (TBX4)
• Meier-Gorlin syndrome 1 (ORC1)
• Meier-Gorlin syndrome 2 (ORC4)
• Meier-Gorlin syndrome 3 (ORC6)
• Meier-Gorlin syndrome 4 (CDT1)
• Meier-Gorlin syndrome 5 (CDC6)
• Meier-Gorlin syndrome 6 (GMNN)
• Meier-Gorlin syndrome 7 (CDC45)
• Meier-Gorlin syndrome 8 (MCM5)
• Mowat-Wilson syndrome (ZEB2)
• Nail-patella syndrome (LMX1B)
• RAPADILINO syndrome (RECQL4)
• Rothmund-Thomson syndrome, type 2 (RECQL4)
• Say-Barber-Biesecker-Young-Simpson variant of Ohdo, SBBYSS, syndrome (KAT6B)
• Toriello-Carey syndrome (PGAP3, DDX3X, UBE3B)