syndromic BNOMRD
syndromal bilateral cystic renal dysplasia
List
- Meckel syndrome (MKS) (MIM.249000)
- Bardet-Bield syndrome (BBS) (MIM.209900)
- VATER association (VACTERL association) (MIM.192350)
- DiGeorge syndrome (MIM.188400)
- Cumming syndrome (MIM.211890)
- Goldenhar syndrome (MIM.164210)
- situs inversus totalis with reno-pancreatic dysplasia (MIM.603643)
- branchiootorenal syndrome (MIM.113650) (EYAI mutations at 8q13.3)
- Feingold syndrome (NMYC haploinsufficiency) (15185158)
- short-rib polydactyly syndromes (SRPSs)
- short-rib polydactyly syndrome type 1 (Saldino-Noonan syndrome) (SRPS1) (MIM.263530)
- short-rib polydactyly syndrome type 2 (Majewski syndrome) (SRPS2) (MIM.263520)
- short-rib polydactyly syndrome type 4 (Beemer-Langer syndrome) (SRPS4) (9610623)
- Jeune syndrome (MIM.208500)
- nail-patella syndrome (MIM.256020)
- Ellis-van Creveld disease (MIM.225500)
- ischiospinal dysostosis (12868471)
- Elejalde syndrome (acrocephalopolydactylous dysplasia) (MIM.200995)
- thanatophoric dysplasia type 1 (17375526)
- Roberts syndrome (MIM.268300)
- Zellweger syndrome (MIM.214100)
- carnitine palmitoyltransferase deficiency type 2 (CPT2) (MIM.608836)
- glutaric aciduria type 2 (multiple acyl-CoA dehydrogenation deficiency - MADD) (MIM.231680)
- Smith-Lemli-Opitz syndrome (SLOS) (MIM.270400)
chromosomal anomalies
- trisomy 9
- trisomy 13
- trisomy 18
- trisomy 21
- t(1;2)(q32;p25) (1q32 and 2p25) (12694239)
- 17q12 deletion including TCF2 (17924346)
embryopathies/fetopathies
- fetal alcohol syndrome
- diabetic embryopathy
miscellaneous
- TCF2-associated renal dysplasia
- hypoparathyroidism, deafness, and renal dysplasia syndrome (GATA3-associated renal dysplasia) (15705923)
- tuberous sclerosis complex
- Beckwith-Wiedemann syndrome (BWS)