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 FAT1 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
Auricular tag
2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Blepharophimosis
2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Broad flat nasal bridge
2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Epicanthus inversus
2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Learning disability, mild
2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
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