KNL1

kinetochore scaffold 1
OMIM: 609173
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly 4, primary, autosomal recessive 604321
R-numbers: R88
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MCPH, primary microcephaly, Primary Microcephaly, Recessive, Microcephaly 4, primary, autosomal recessive, 604321, Microcephaly 4, Primary, Autosomal Recessive