NAGLU - Gene browser

NAGLU

N-acetyl-alpha-glucosaminidase

HCNC Approved Symbol: NAGLU (HGNC:7632)
Genomic Coordinates: 17:42,536,241 - 42,544,449 (17q21.2)
Synonyms: NAG
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

15Patients

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

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

015
Patient count

Developmental regression: 3 (20.0%)
Patient Count: 3 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (20.0%)
Coarse face: 3 (20.0%)
Patient Count: 3 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (20.0%)
Hirsutism: 3 (20.0%)
Patient Count: 3 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (20.0%)
Intellectual disability: 3 (20.0%)
Patient Count: 3 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (20.0%)
Developmental delay: 3 (20.0%)
Patient Count: 3 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (20.0%)