PMM2 - Gene browser

PMM2

phosphomannomutase 2

HCNC Approved Symbol: PMM2 (HGNC:9115)
Genomic Coordinates: 16:8,797,839 - 8,849,325 (16p13.2)
Synonyms: CDGS, CDG1a, PMI, PMI1, CDG1
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

25Patients

In total, 25 patients were diagnosed with a variant in the PMM2 gene.

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

025
Patient count

Developmental delay: 8 (32.0%)
Patient Count: 8 (32.0%)
% of total patients presenting each phenotype is shown in parentheses.
8 (32.0%)
Cerebellar atrophy: 6 (24.0%)
Patient Count: 6 (24.0%)
% of total patients presenting each phenotype is shown in parentheses.
6 (24.0%)
Intellectual disability: 4 (16.0%)
Patient Count: 4 (16.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (16.0%)
Brachydactyly: 3 (12.0%)
Patient Count: 3 (12.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (12.0%)
Deep-set eyes: 3 (12.0%)
Patient Count: 3 (12.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (12.0%)