KDM6B - Gene browser

KDM6B

lysine demethylase 6B

HCNC Approved Symbol: KDM6B (HGNC:29012)
Genomic Coordinates: 17:7,834,217 - 7,854,796 (17p13.1)
Synonyms: KIAA0346, JMJD3
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

4Patients

In total, 4 patients were diagnosed with a variant in the KDM6B gene.

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

04
Patient count

Developmental regression: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Autistic feature: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Delayed speech: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Generalized tonic-clonic seizures: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Gross motor delay: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)