ASXL3 - Gene browser

ASXL3

ASXL transcriptional regulator 3

HCNC Approved Symbol: ASXL3 (HGNC:29357)
Genomic Coordinates: 18:33,578,219 - 33,751,195 (18q12.1)
Synonyms: KIAA1713
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

28Patients

In total, 28 patients were diagnosed with a variant in the ASXL3 gene.

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

028
Patient count

Global developmental delay: 13 (46.4%)
Patient Count: 13 (46.4%)
% of total patients presenting each phenotype is shown in parentheses.
13 (46.4%)
Microcephaly: 8 (28.6%)
Patient Count: 8 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
8 (28.6%)
Intellectual disability: 7 (25.0%)
Patient Count: 7 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
7 (25.0%)
Facial dysmorphism: 7 (25.0%)
Patient Count: 7 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
7 (25.0%)
Delayed speech and language development: 6 (21.4%)
Patient Count: 6 (21.4%)
% of total patients presenting each phenotype is shown in parentheses.
6 (21.4%)