| Disease Aliases (22) | Congenital stiff man syndrome Exaggerated startle reaction Familial startle disease Hkpx1 Hereditary hyperekplexia Hereditary hyperexplexia Hyperexplexia hereditary Kok disease Startle disease, familial Startle reaction, exaggerated Sthe Stiff-baby syndrome Stiff-man syndrome, congenital Stiff-person syndrome, congenital Stiff baby syndrome Hyperekplexia 1; hkpx1 Hyperekplexia type 1 Hyperekplexia, hereditary 1 Hyperekplexia, hereditary 1; hkpx1 Hyperekplexia, hereditary type 1 Startle disease |
Associated Genes (5) NCBI-RefSeq: GLRB (Glycine receptor beta) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: GLRA1 (Glycine receptor alpha 1) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: SLC6A5 (Solute carrier family 6 member 5) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: ATAD1 (ATPase family AAA domain containing 1) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: GPHN (Gephyrin) External Links: gnomAD browser Ensembl GeneCards
| |||||||
| Cross-references of Hyperekplexia 1 | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |