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.
Frequently observed phenotypes(Top 5 only)
(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.
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