ASXL1 - Gene browser

ASXL1

ASXL transcriptional regulator 1

HCNC Approved Symbol: ASXL1 (HGNC:18318)
Genomic Coordinates: 20:32,358,331 - 32,439,319 (20q11.21)
Synonyms: KIAA0978
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

9Patients

In total, 9 patients were diagnosed with a variant in the ASXL1 gene.

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

09
Patient count

Global developmental delay: 3 (33.3%)
Patient Count: 3 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (33.3%)
Hypotonia: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)
Severe failure to thrive: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)
Short stature, severe: 1 (11.1%)
Patient Count: 1 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
1 (11.1%)
Squint eyes: 1 (11.1%)
Patient Count: 1 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
1 (11.1%)