ALG1 - Gene browser

ALG1

ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase

HCNC Approved Symbol: ALG1 (HGNC:18294)
Genomic Coordinates: 16:5,071,843 - 5,087,379 (16p13.3)
Synonyms: HMT-1, HMAT1, CDG1K, Mat-1
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

10Patients

In total, 10 patients were diagnosed with a variant in the ALG1 gene.

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

010
Patient count

Global developmental delay: 3 (30.0%)
Patient Count: 3 (30.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (30.0%)
Central hypothyroidism: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Delayed development: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Delayed growth: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Secondary adrenal insufficiency: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)