AMPD2 - Gene browser

AMPD2

adenosine monophosphate deaminase 2

HCNC Approved Symbol: AMPD2 (HGNC:469)
Genomic Coordinates: 1:109,619,837 - 109,632,055 (1p13.3)
Synonyms: SPG63
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

5Patients

In total, 5 patients were diagnosed with a variant in the AMPD2 gene.

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

05
Patient count

Intellectual disability: 5 (100.0%)
Patient Count: 5 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
5 (100.0%)
Seizures: 3 (60.0%)
Patient Count: 3 (60.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (60.0%)
Autism: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Autism spectrum disorder: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Difficulty speaking: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)