Klinische FragestellungBardet-Biedl-Syndrom, Differentialdiagnose II [Erweiterungs-panel]

NGS +

illness_ClinicalComment_BP1271

• Allelic: Bardet-Biedl syndrome 14, modifier of (TMEM67)
• Allelic: Choroidal dystrophy, central areolar 1 (GUCY2D)
• Allelic: Cone-rod dystrophy 6 (GUCY2D)
• Allelic: Night blindness, congenital stationary, type 1I (GUCY2D)
• Allelic: Pigmented paravenous chorioretinal atrophy (CRB1)
• Allelic: Renal-hepatic-pancreatic dysplasia 1 (NPHP3)
• Allelic: Retinitis pigmentosa 20 (RPE65)
• Allelic: Retinitis pigmentosa 87 with choroidal involvement (RPE65)
• Allelic: Retinitis pigmentosa-12 (CRB1)
• Alstrom syndrome (ALMS1)
• Bardet-Biedl syndrome 13 (MKS1)
• Bardet-Biedl syndrome 14 (CEP290)
• Bardet-Biedl syndrome 16 (SDCCAG8)
• Bardet-Biedl syndrome 6 (MKKS)
• COACH syndrome 1 (TMEM67)
• COACH syndrome 2 (CC2D2A)
• COACH syndrome 3 (RPGRIP1L)
• Cranioectodermal dysplasia 4 (WDR19)
• Joubert syndrome 17 (CPLANE1)
• Joubert syndrome 2 (TMEM216)
• Joubert syndrome 20 (TMEM231)
• Joubert syndrome 24 (TCTN2)
• Joubert syndrome 27 (B9D1)
• Joubert syndrome 28 (MKS1)
• Joubert syndrome 29 (TMEM107)
• Joubert syndrome 3 (AHI1)
• Joubert syndrome 34 (B9D2)
• Joubert syndrome 4 (NPHP1)
• Joubert syndrome 5 (CEP290)
• Joubert syndrome 6 (TMEM67)
• Joubert syndrome 7 (RPGRIP1L)
• Joubert syndrome 9 (CC2D2A)
• Leber congenital amaurosis 1 (GUCY2D)
• Leber congenital amaurosis 10 (CEP290)
• Leber congenital amaurosis 13 (RDH12)
• Leber congenital amaurosis 2 (RPE65)
• Leber congenital amaurosis 8 (CRB1)
• McKusick-Kaufman syndrome (MKKS)
• Meckel syndrome 1 (MKS1)
• Meckel syndrome 10 (B9D2)
• Meckel syndrome 11 (TMEM231)
• Meckel syndrome 12 (KIF14)
• Meckel syndrome 13 (TMEM107)
• Meckel syndrome 14 (TXNDC15)
• Meckel syndrome 2 (TMEM216)
• Meckel syndrome 3 (TMEM67)
• Meckel syndrome 4 (CEP290)
• Meckel syndrome 5 (RPGRIP1L)
• Meckel syndrome 6 (CC2D2A)
• Meckel syndrome 7 (NPHP3)
• Meckel syndrome 8 (TCTN2)
• Meckel syndrome 9 (B9D1)
• Microcephaly 20, primary, AR (KIF14)
• Nephronophthisis 1, juvenile (NPHP1)
• Nephronophthisis 11 (TMEM67)
• Nephronophthisis 13 (WDR19)
• Nephronophthisis 3 (NPHP3)
• Nephronophthisis 4 (NPHP4)
• Orofaciodigital syndrome VI (CPLANE1)
• Orofaciodigital syndrome XVI (TMEM107)
• RHYNS syndrome (TMEM67)
• Senior-Loken syndrome 1 (NPHP1)
• Senior-Loken syndrome 4 (NPHP4)
• Senior-Loken syndrome 5 (IQCB1)
• Senior-Loken syndrome 6 (CEP290)
• Senior-Loken syndrome 7 (SDCCAG8)
• Senior-Loken syndrome 8 (WDR19)
• Senior-Loken syndrome 9 (TRAF3IP1)
• Short-rib thoracic dysplasia 5 with/-out polydactyly (WDR19)