SGSH - Gene browser

SGSH

N-sulfoglucosamine sulfohydrolase

HCNC Approved Symbol: SGSH (HGNC:10818)
Genomic Coordinates: 17:80,200,673 - 80,220,333 (17q25.3)
Synonyms: HSS, MPS3A, SFMD
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

17Patients

In total, 17 patients were diagnosed with a variant in the SGSH gene.

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

017
Patient count

Intellectual disability: 9 (52.9%)
Patient Count: 9 (52.9%)
% of total patients presenting each phenotype is shown in parentheses.
9 (52.9%)
Delayed development: 8 (47.1%)
Patient Count: 8 (47.1%)
% of total patients presenting each phenotype is shown in parentheses.
8 (47.1%)
Developmental regression: 8 (47.1%)
Patient Count: 8 (47.1%)
% of total patients presenting each phenotype is shown in parentheses.
8 (47.1%)
Hearing loss: 8 (47.1%)
Patient Count: 8 (47.1%)
% of total patients presenting each phenotype is shown in parentheses.
8 (47.1%)
Mucopolysacchariduria: 3 (17.6%)
Patient Count: 3 (17.6%)
% of total patients presenting each phenotype is shown in parentheses.
3 (17.6%)