PCDH12

protocadherin 12
OMIM: 605622
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, seizures, spasticity, and brain calcification 251280
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
intellectual disability, microcephaly, epilepsy, perithalamic hyperechogenicity, periventricular hyperechogenicity, midbrain abnormalities, hypothalamic abnormalities, Microcephaly, seizures, spasticity, and brain calcification, 251280