NGLY1 - Gene browser

NGLY1

N-glycanase 1

HCNC Approved Symbol: NGLY1 (HGNC:17646)
Genomic Coordinates: 3:25,718,944 - 25,790,039 (3p24.2)
Synonyms: FLJ11005, PNG1, PNG-1
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

15Patients

In total, 15 patients were diagnosed with a variant in the NGLY1 gene.

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

015
Patient count

Global developmental delay: 6 (40.0%)
Patient Count: 6 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
6 (40.0%)
Hypotonia: 5 (33.3%)
Patient Count: 5 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
5 (33.3%)
Dysmorphic facies: 4 (26.7%)
Patient Count: 4 (26.7%)
% of total patients presenting each phenotype is shown in parentheses.
4 (26.7%)
Developmental delay: 3 (20.0%)
Patient Count: 3 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (20.0%)
Anteverted nares: 2 (13.3%)
Patient Count: 2 (13.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (13.3%)