NEDD4L

neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
OMIM: 606384
PanelMode of inheritanceDetails
4 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cleft palate, toe syndactyly, periventricular nodular heterotopia, Periventricular nodular heterotopia 7 (includes clefting), 617201, Cleft palate
R-numbers: R21, R412
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Periventricular nodular heterotopia 7, OMIM:617201, Periventricular nodular heterotopia 7, MONDO:0014966
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
Periventricular nodular heterotopia 7, 617201
Component of the following Super Panels:
  • - Cerebral malformations
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Periventricular nodular heterotopia 7 617201