SLC4A11 - Gene browser

SLC4A11

solute carrier family 4 member 11

HCNC Approved Symbol: SLC4A11 (HGNC:16438)
Genomic Coordinates: 20:3,227,417 - 3,239,559 (20p13)
Synonyms: dJ794I6.2, BTR1, NaBC1, FECD4, CHED2, CDPD1
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

5Patients

In total, 5 patients were diagnosed with a variant in the SLC4A11 gene.

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

05
Patient count

Abnormal hair whorl: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Corneal dystrophy: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Failure to thrive: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Myopia: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Scarring or clouding of the cornea of the eye: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)