Aortic stenoses, hypercalcemia-supravalvar

Aortic stenosis, hypercalcemia-supravalvar

Beuren syndrome

Chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb

Chromosome 7q11.23 deletion syndrome

Contiguous gene syndrome, williams

Deletion 7q11.23

Fanconi schlesinger syndrome

Hypercalcemia supravalvar aortic stenosis

Hypercalcemia-supravalvar aortic stenoses

Hypercalcemia-supravalvar aortic stenosis

Monosomy 7q11.23

Stenoses, hypercalcemia-supravalvar aortic

Stenosis, hypercalcemia-supravalvar aortic

Supravalvar aortic stenosis syndrome

Syndrome, beuren

Syndrome, williams

Syndrome, williams-beuren

Wbs

Williams syndrome

Wms

Ws

William syndrome

Williams beuren syndrome

Williams contiguous gene syndrome

Williams-beuren syndrome

Williams-beuren syndrome (wbs)

Williams-beuren syndrome; wbs

NCBI-RefSeq:  RFC2   (Replication factor C subunit 2)

External Links:  gnomAD browser   Ensembl   GeneCards

NCBI-RefSeq:  BCL7B   (BAF chromatin remodeling complex subunit BCL7B)

External Links:  gnomAD browser   Ensembl   GeneCards

NCBI-RefSeq:  STX1A   (Syntaxin 1A)

External Links:  gnomAD browser   Ensembl   GeneCards

NCBI-RefSeq:  TBL2   (Transducin beta like 2)

External Links:  gnomAD browser   Ensembl   GeneCards

NCBI-RefSeq:  GTF2I   (General transcription factor IIi)

External Links:  gnomAD browser   Ensembl   GeneCards

NCBI-RefSeq:  EIF4H   (Eukaryotic translation initiation factor 4H)

External Links:  gnomAD browser   Ensembl   GeneCards

NCBI-RefSeq:  MLXIPL   (MLX interacting protein like)

External Links:  gnomAD browser   Ensembl   GeneCards

NCBI-RefSeq:  BUD23   (BUD23 rRNA methyltransferase and ribosome maturation factor)

External Links:  gnomAD browser   Ensembl   GeneCards

NCBI-RefSeq:  DNAJC30   (DnaJ heat shock protein family (Hsp40) member C30)

External Links:  gnomAD browser   Ensembl   GeneCards

NCBI-RefSeq:  VPS37D   (VPS37D subunit of ESCRT-I)

External Links:  gnomAD browser   Ensembl   GeneCards

NCBI-RefSeq:  METTL27   (Methyltransferase like 27)

External Links:  gnomAD browser   Ensembl   GeneCards

NCBI-RefSeq:  TMEM270   (Transmembrane protein 270)

External Links:  gnomAD browser   Ensembl   GeneCards

NCBI-RefSeq:  CLIP2   (CAP-Gly domain containing linker protein 2)

External Links:  gnomAD browser   Ensembl   GeneCards

NCBI-RefSeq:  GTF2IRD2   (GTF2I repeat domain containing 2)

External Links:  gnomAD browser   Ensembl   GeneCards

NCBI-RefSeq:  ELN   (Elastin)

External Links:  gnomAD browser   Ensembl   GeneCards

NCBI-RefSeq:  BAZ1B   (Bromodomain adjacent to zinc finger domain 1B)

External Links:  gnomAD browser   Ensembl   GeneCards

NCBI-RefSeq:  NCF1   (Neutrophil cytosolic factor 1)

External Links:  gnomAD browser   Ensembl   GeneCards

NCBI-RefSeq:  FKBP6   (FKBP prolyl isomerase family member 6 (inactive))

External Links:  gnomAD browser   Ensembl   GeneCards

NCBI-RefSeq:  GTF2IRD1   (GTF2I repeat domain containing 1)

External Links:  gnomAD browser   Ensembl   GeneCards

NCBI-RefSeq:  LIMK1   (LIM domain kinase 1)

External Links:  gnomAD browser   Ensembl   GeneCards