CLTC

clathrin heavy chain
OMIM: 118955
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental retardation, autosomal dominant 56, 617854, Autosomal dominant non-syndromic intellectual disability, Epilepsy and intellectual disability
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
Mental retardation, autosomal dominant 56, 617854, Autosomal dominant non-syndromic intellectual disability, Epilepsy and intellectual disability