AHDC1 - Gene browser

AHDC1

AT-hook DNA binding motif containing 1

HCNC Approved Symbol: AHDC1 (HGNC:25230)
Genomic Coordinates: 1:27,534,245 - 27,604,227 (1p36.11-p35.3)
Synonyms: DJ159A19.3, RP1-159A19.1
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

15Patients

In total, 15 patients were diagnosed with a variant in the AHDC1 gene.

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

015
Patient count

Global developmental delay: 7 (46.7%)
Patient Count: 7 (46.7%)
% of total patients presenting each phenotype is shown in parentheses.
7 (46.7%)
Developmental delay: 3 (20.0%)
Patient Count: 3 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (20.0%)
Facial dysmorphism: 3 (20.0%)
Patient Count: 3 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (20.0%)
Generalized hypotonia: 2 (13.3%)
Patient Count: 2 (13.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (13.3%)
Hypotonia: 2 (13.3%)
Patient Count: 2 (13.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (13.3%)