MBOAT7

membrane bound O-acyltransferase domain containing 7
OMIM: 606048
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mental retardation, autosomal recessive 57 617188
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mental retardation, autosomal recessive 57, 617188, Intellectual Disability Accompanied by Epilepsy and Autistic Features, Autosomal recessive non-syndromic intellectual disability