GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version
KBG Syndrome  
Disease Aliases (10)

Kbg syndrome

Kbg syndrome; kbgs

Kbgs

Macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies

Short stature - facial and skeletal anomalies - intellectual disability - macrodontia

Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies

Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome

Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome

Macrodontia, intellectual disability, characteristic facies, short stature, and skeletal anomalies

Short stature, characteristic facies, macrodontia, intellectual disability, and skeletal anomalies

Associated Genes (1)
 

NCBI-RefSeq:  ANKRD11   (Ankyrin repeat domain containing 11)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of KBG syndrome OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations