RECQL4 - Gene browser

RECQL4

RecQ like helicase 4

HCNC Approved Symbol: RECQL4 (HGNC:9949)
Genomic Coordinates: 8:144,511,288 - 144,517,833 (8q24.3)
Synonyms: RecQ4
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

4Patients

In total, 4 patients were diagnosed with a variant in the RECQL4 gene.

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

04
Patient count

Disproportionate short stature: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Facial dysmorphism: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Poikiloderma: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Rash: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Sparse scalp hair: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)