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Hereditary hyperekplexia

Disease Export to PDF
Name:
Hereditary hyperekplexia
Description:
Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.
ORPHAcode:
3197
Synonyms:
Congenital stiff man syndrome
Familial startle disease
Hereditary hyperexplexia
Kok disease
Stiff baby syndrome
XREF(s):
Orphanet
OMIM
OMIM
OMIM
OMIM
ICD-10
Analyte(s):
ATAD1
GLRA1
GLRB
GPHN
SLC6A5
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Hyperekplexia (3 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    SLC6A5
    GLRB
    GLRA1
  • Hyperekplexia (6 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ARHGEF9 100.00 1 NM_001353921.2
    ATAD1 100.00 1 NM_001321967.1
    GLRA1 100.00 1 NM_000171.4
    GLRB 100.00 1 NM_000824.5
    GPHN 100.00 1 NM_020806.4
    SLC6A5 100.00 1 NM_004211.5