HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
OMIM: 605109
PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Macrocephaly, dysmorphic facies, and psychomotor retardation 617011