PRR12

PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Global developmental delay, Intellectual disability, Abnormality of the iris, Abnormality of vision, Behavioral abnormality, Abnormality of the iris, Behavioral abnormality, Intellectual disability, Global developmental delay, Abnormality of vision
R-numbers: R36
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes