ISCA-37468-Loss

Xp11.23 region (includes MAOA and MAOB) Loss
PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
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