CTBP1

C-terminal binding protein 1
OMIM: 602618
PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915
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, imprinted status unknown
Phenotypes
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915