TBC1D24 - Gene browser

TBC1D24

TBC1 domain family member 24

HCNC Approved Symbol: TBC1D24 (HGNC:29203)
Genomic Coordinates: 16:2,475,127 - 2,505,730 (16p13.3)
Synonyms: KIAA1171, TLDC6, DFNA65, DFNB86
Disease Associations: This gene is associated with the following 6 diseases in OMIM.

Diagnosed Cases

5Patients

In total, 5 patients were diagnosed with a variant in the TBC1D24 gene.

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

05
Patient count

Dystonia: 3 (60.0%)
Patient Count: 3 (60.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (60.0%)
Encephalopathy: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
External ear malformations: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Facial dysmorphism: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Generalized hypotonia: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)