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
3Patients
In total, 3 patients were diagnosed with a variant in the ACTL6A gene.
Frequently observed phenotypes(Top 5 only)
(Top 5 only, Patient count*) *% of total patients presenting each phenotype is shown in parentheses.
03 Patient count
Low set ears
2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Autism spectrum disorder
1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Fair skin
1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Global developmental delay
1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Prominent nasal tip
1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
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