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Brain channelopathy v1.55 ISCA-37468-Loss Louise Daugherty Triplosensitivity Score for ISCA-37468-Loss was changed from to None.
Model of inheritance for Region: ISCA-37468-Loss was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than females) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Brain channelopathy v1.31 ISCA-37468-Loss Louise Daugherty Region: ISCA-37468-Loss was added
Region: ISCA-37468-Loss was added to Brain channelopathy. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37468-Loss was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than females)
Publications for Region: ISCA-37468-Loss were set to 20485326; 22365943; 23414621
Phenotypes for Region: ISCA-37468-Loss were set to episodes of sudden loss of muscle tone; severe intellectual disability; exiting behavior; short stature; eleveated serotonin levels; autistic features; lip-smacking; hypotonia; stereotypical hand movements