GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version
Acrocallosal Syndrome  
Disease Aliases (16)

Acls

Acs

Absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly

Acrocallosal syndromes

Acrocallosal syndrome

Acrocallosal syndrome, schinzel type

Hallux duplication, postaxial polydactyly, and absence of corpus callosum

Jbts12

Joubert syndrome 12

Joubert syndrome 12/15, digenic

Kif7-related joubert syndrome

Schinzel acrocallosal syndrome

Schinzel syndrome 1

Syndrome, acrocallosal

Syndromes, acrocallosal

Acrocallosal syndrome; acls

Associated Genes (2)
 

NCBI-RefSeq:  GLI3   (GLI family zinc finger 3)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  KIF7   (Kinesin family member 7)

External Links:  gnomAD browser   Ensembl   GeneCards

 


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