CEP135

centrosomal protein 135
OMIM: 611423
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 8, primary, autosomal recessive, 614673, PRIMARY MICROCEPHALY AND DISTURBED CENTROSOMAL FUNCTION
R-numbers: R88
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MCPH, primary microcephaly, Autosomal recessive primary microcephaly (MCPH), ?Microcephaly 8, primary, autosomal recessive, 614673, Primary Microcephaly and Disturbed Centrosomal Function, 614673