KLHL20 - Gene browser

KLHL20

kelch like family member 20

HCNC Approved Symbol: KLHL20 (HGNC:25056)
Genomic Coordinates: 1:173,714,981 - 173,786,692 (1q25.1)
Synonyms: KLEIP, KHLHX
Disease Associations: Currently, this gene is not associated with any human disease in OMIM.
However, the following publication(s) suggest a possible gene disease association.

Diagnosed Cases

5Patients

In total, 5 patients were diagnosed with a variant in the KLHL20 gene.

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

05
Patient count

Seizures: 3 (60.0%)
Patient Count: 3 (60.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (60.0%)
Global developmental delay: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Learning difficulties: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Autistic traits: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Bulbous tips of toes: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)