KLHL40 - Gene browser

KLHL40

kelch like family member 40

HCNC Approved Symbol: KLHL40 (HGNC:30372)
Genomic Coordinates: 3:42,685,537 - 42,692,544 (3p22.1)
Synonyms: SRYP, NEM8, KBTBD5
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 KLHL40 gene.

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

06
Patient count

Breathing difficulties, neonatal: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Central hypotonia: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Contractures of fingers: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Contractures of knees: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Decreased fetal movements: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)