TBCD

tubulin folding cofactor D
OMIM: 604649
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Early-Onset Neurodegenerative Encephalopathy
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, OMIM:617193, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, MONDO:0044646
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, OMIM:617193, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, MONDO:0044646
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, OMIM:617193, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, MONDO:0044646