MFSD8 - Gene browser

MFSD8

major facilitator superfamily domain containing 8

HCNC Approved Symbol: MFSD8 (HGNC:28486)
Genomic Coordinates: 4:127,917,732 - 127,965,963 (4q28.2)
Synonyms: MGC33302, CLN7
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

3Patients

In total, 3 patients were diagnosed with a variant in the MFSD8 gene.

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

03
Patient count

Cerebellar atrophy: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Neurodevelopmental regression: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Optic atrophy: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Hypertonia: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Cerebral atrophy: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)