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