ATIC - Gene browser

ATIC

5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase

HCNC Approved Symbol: ATIC (HGNC:794)
Genomic Coordinates: 2:215,312,059 - 215,368,592 (2q35)
Synonyms: PURH, AICARFT, IMPCHASE
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

4Patients

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

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

04
Patient count

Blue sclerae: 4 (100.0%)
Patient Count: 4 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (100.0%)
Broad forehead: 4 (100.0%)
Patient Count: 4 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (100.0%)
Global developmental delay: 4 (100.0%)
Patient Count: 4 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (100.0%)
Dysmorphic facial features: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Horizontal nystagmus: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)