TBCD - Gene browser

TBCD

tubulin folding cofactor D

HCNC Approved Symbol: TBCD (HGNC:11581)
Genomic Coordinates: 17:82,752,065 - 82,945,914 (17q25.3)
Synonyms
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

6Patients

In total, 6 patients were diagnosed with a variant in the TBCD gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

06
Patient count

Global developmental delay: 5 (83.3%)
Patient Count: 5 (83.3%)
% of total patients presenting each phenotype is shown in parentheses.
5 (83.3%)
Cerebral atrophy: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Progressive microcephaly: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Epilepsy: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Generalized brain atrophy: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)