ALG12 - Gene browser

ALG12

ALG12 alpha-1,6-mannosyltransferase

HCNC Approved Symbol: ALG12 (HGNC:19358)
Genomic Coordinates: 22:49,859,311 - 49,918,438 (22q13.33)
Synonyms: ECM39, CDG1G
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

5Patients

In total, 5 patients were diagnosed with a variant in the ALG12 gene.

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

05
Patient count

Cerebellar atrophy: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Cerebral cortical atrophy: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Cerebral ventricular dilatation: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Delayed speech and language development: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Arachnodactyly: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)