SAMHD1 - Gene browser

SAMHD1

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

HCNC Approved Symbol: SAMHD1 (HGNC:15925)
Genomic Coordinates: 20:36,889,773 - 36,951,708 (20q11.23)
Synonyms: SBBI88, Mg11, HDDC1, MOP-5, AGS5
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

4Patients

In total, 4 patients were diagnosed with a variant in the SAMHD1 gene.

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

04
Patient count

Hypotonia: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Leukodystrophy: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Psychomotor delay: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Cryptorchidism: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Cutaneous vasculitis: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)