SURF1 - Gene browser

SURF1

SURF1 cytochrome c oxidase assembly factor

HCNC Approved Symbol: SURF1 (HGNC:11474)
Genomic Coordinates: 9:133,351,758 - 133,356,487 (9q34.2)
Synonyms: SHY1
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

21Patients

In total, 21 patients were diagnosed with a variant in the SURF1 gene.

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

021
Patient count

Developmental delay: 6 (28.6%)
Patient Count: 6 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
6 (28.6%)
Hypotonia: 5 (23.8%)
Patient Count: 5 (23.8%)
% of total patients presenting each phenotype is shown in parentheses.
5 (23.8%)
Abnormality of the basal ganglia: 4 (19.0%)
Patient Count: 4 (19.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (19.0%)
Hirsutism: 4 (19.0%)
Patient Count: 4 (19.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (19.0%)
Developmental regression: 4 (19.0%)
Patient Count: 4 (19.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (19.0%)