EED

embryonic ectoderm development
OMIM: 605984
PanelMode of inheritanceDetails
3 panels
R-numbers: R21, R412
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cohen-Gibson syndrome, OMIM:617561, Cohen-Gibson syndrome, MONDO:0060510
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cohen-Gibson syndrome, 617561, Human overgrowth syndrome type, Overgrowth with Intellectual disability
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cohen-Gibson syndrome 617561, Cohen-Gibson syndrome 617561