HSD17B4 - Gene browser

HSD17B4

hydroxysteroid 17-beta dehydrogenase 4

HCNC Approved Symbol: HSD17B4 (HGNC:5213)
Genomic Coordinates: 5:119,452,497 - 119,542,332 (5q23.1)
Synonyms: MFE-2, DBP, SDR8C1
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

8Patients

In total, 8 patients were diagnosed with a variant in the HSD17B4 gene.

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

08
Patient count

Seizures: 4 (50.0%)
Patient Count: 4 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (50.0%)
Hypotonia: 3 (37.5%)
Patient Count: 3 (37.5%)
% of total patients presenting each phenotype is shown in parentheses.
3 (37.5%)
Generalized hypotonia: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Facial dysmorphism: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Hypotonia, neonatal: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)