SZT2 - Gene browser

SZT2

SZT2 subunit of KICSTOR complex

HCNC Approved Symbol: SZT2 (HGNC:29040)
Genomic Coordinates: 1:43,389,899 - 43,454,247 (1p34.2)
Synonyms: FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A, KICS1, C1orf84, KIAA0467
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

3Patients

In total, 3 patients were diagnosed with a variant in the SZT2 gene.

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

03
Patient count

Global developmental delay: 3 (100.0%)
Patient Count: 3 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (100.0%)
Macrocephaly: 3 (100.0%)
Patient Count: 3 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (100.0%)
3-hydroxyglutaric acid high in urine: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
3-methylglutaric aciduria: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Abdominal distension: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)