MADD

MAP kinase activating death domain
OMIM: 603584
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia, 619005, DEEAH syndrome, 619004
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia, 619005, DEEAH syndrome, 619004