NAXE - Gene browser

NAXE

NAD(P)HX epimerase

HCNC Approved Symbol: NAXE (HGNC:18453)
Genomic Coordinates: 1:156,591,776 - 156,594,299 (1q22)
Synonyms: AIBP, MGC119143, MGC119144, MGC119145, YJEFN1, APOA1BP
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

8Patients

In total, 8 patients were diagnosed with a variant in the NAXE gene.

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

08
Patient count

Ataxia: 5 (62.5%)
Patient Count: 5 (62.5%)
% of total patients presenting each phenotype is shown in parentheses.
5 (62.5%)
Seizures: 5 (62.5%)
Patient Count: 5 (62.5%)
% of total patients presenting each phenotype is shown in parentheses.
5 (62.5%)
Delayed fine motor development: 4 (50.0%)
Patient Count: 4 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (50.0%)
Delayed gross motor development: 4 (50.0%)
Patient Count: 4 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (50.0%)
Delayed speech and language development: 4 (50.0%)
Patient Count: 4 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (50.0%)