CLPB - Gene browser

CLPB

ClpB family mitochondrial disaggregase

HCNC Approved Symbol: CLPB (HGNC:30664)
Genomic Coordinates: 11:72,285,495 - 72,434,531 (11q13.4)
Synonyms: SKD3, FLJ13152, ANKCLP
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

2Patients

In total, 2 patients were diagnosed with a variant in the CLPB gene.

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

02
Patient count

Global developmental delay: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
3-methylglutaconicaciduria: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Hypotonia: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Neutropenia: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Recurrent infections: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)