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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Table B.

OMIM Entries for Cornelia de Lange Syndrome (View All in OMIM)

122470CORNELIA DE LANGE SYNDROME 1; CDLS1
300040STRUCTURAL MAINTENANCE OF CHROMOSOMES 1A; SMC1A
300269HISTONE DEACETYLASE 8; HDAC8
300590CORNELIA DE LANGE SYNDROME 2; CDLS2
300882CORNELIA DE LANGE SYNDROME 5; CDLS5
606062STRUCTURAL MAINTENANCE OF CHROMOSOMES 3; SMC3
606462RAD21 COHESIN COMPLEX COMPONENT; RAD21
608667NIPPED-B-LIKE; NIPBL
608749BROMODOMAIN-CONTAINING PROTEIN 4; BRD4
610759CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; CDLS3
614701CORNELIA DE LANGE SYNDROME 4 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; CDLS4
620568CORNELIA DE LANGE SYNDROME 6; CDLS6

From: Cornelia de Lange Syndrome

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