GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version
Amelocerebrohypohidrotic Syndrome  
Disease Aliases (15)

Epilepsy and yellow teeth

Epilepsy, dementia, and amelogenesis imperfecta

Epilepsy - dementia - amelogenesis imperfecta

Epilepsy dementia amelogenesis imperfecta

Epilepsy, dementia and amelogenesis imperfecta

Epilepsy, mental deterioration and yellow teeth

Epilepsy-dementia-amelogenesis imperfecta syndrome

Kohlschutter syndrome

Kohlschutter-tonz syndrome; ktzs

Ktzs

Kohlschutter tonz syndrome

Kohlschutter's syndrome

Kohlschutter-tonz syndrome

Kohlschütter-tönz syndrome

Amelocerebrohypohidrotic syndrome

Associated Genes (2)
 

NCBI-RefSeq:  ROGDI   (Rogdi atypical leucine zipper)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  SLC13A5   (Solute carrier family 13 member 5)

External Links:  gnomAD browser   Ensembl   GeneCards

 


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