NDP

NDP, norrin cystine knot growth factor
OMIM: 300658
PanelMode of inheritanceDetails
6 panels
Green
in Cataracts
R-numbers: R31
Signed-off version 3.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Norrie Disease
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
NORRIE DISEASE 310600
R-numbers: R21, R412
Signed-off version 2.4
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
NORRIE DISEASE
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Norrie disease, 310600Exudative vitreoretinopathy, X-linked, 305390, NORRIE DISEASE
R-numbers: R32
Signed-off version 3.3
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Eye Disorders
R-numbers: R36
Signed-off version 2.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Norrie disease, 310600, Exudative vitreoretinopathy 2, X-linked, 305390, Eye Disorders