CHKA

choline kinase alpha
OMIM: 118491
PanelMode of inheritanceDetails
3 panels
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Abnormal muscle tone, Global developmental delay, Intellectual disability, Seizures, Microcephaly, Abnormality of movement, Abnormality of nervous system morphology, Short stature
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Abnormal muscle tone, Global developmental delay, Intellectual disability, Seizures, Microcephaly, Abnormality of movement, Abnormality of nervous system morphology, Short stature
R-numbers: R88
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Abnormal muscle tone, Global developmental delay, Intellectual disability, Seizures, Microcephaly, Abnormality of movement, Abnormality of nervous system morphology, Short stature