NEDD4L - Gene browser

NEDD4L

NEDD4 like E3 ubiquitin protein ligase

HCNC Approved Symbol: NEDD4L (HGNC:7728)
Genomic Coordinates: 18:58,044,226 - 58,401,540 (18q21.31)
Synonyms: KIAA0439, RSP5, NEDD4-2
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 NEDD4L gene.

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

04
Patient count

Global developmental delay: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Cleft palate: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Eeg with central sharp waves: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Eeg with occipital sharp waves: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Eeg with temporal sharp waves: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)