ISCA-37494-Loss

Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) Loss
PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
PMID: 25927380 cognitive impairment, behavioral problems, distinctive facial features, deletion results in skewed chromosome X inactivation and no clinical phenotype in females, PMID: 21984752 in utero male lethality with deletions