NUP54 - Gene browser

NUP54

nucleoporin 54

HCNC Approved Symbol: NUP54 (HGNC:17359)
Genomic Coordinates: 4:76,114,664 - 76,148,397 (4q21.1)
Synonyms
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

1Patient

In total, 1 patient was diagnosed with a variant in the NUP54 gene.

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

01
Patient count

Cognitive delay: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Generalized hypotonia: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Hyporeflexia: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Motor delay: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Pneumonia: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)