FAM50A

family with sequence similarity 50 member A
OMIM: 300453
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 4.4
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Mental retardation syndrome, X-linked, Armfield type, OMIM:300261, Armfield syndrome, MONDO:0010284