TBC1D23

TBC1 domain family member 23
OMIM: 617687
PanelMode of inheritanceDetails
4 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia, type 11, OMIM:617695
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Non-degenerative Pontocerebellar Hypoplasia
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Non-degenerative Pontocerebellar Hypoplasia
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia, type 11, 617695, Intellectual disability