NIPBL - Gene browser

NIPBL

NIPBL cohesin loading factor

HCNC Approved Symbol: NIPBL (HGNC:28862)
Genomic Coordinates: 5:36,876,769 - 37,066,413 (5p13.2)
Synonyms: IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

38Patients

In total, 38 patients were diagnosed with a variant in the NIPBL gene.

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

038
Patient count

Synophrys: 20 (52.6%)
Patient Count: 20 (52.6%)
% of total patients presenting each phenotype is shown in parentheses.
20 (52.6%)
Microcephaly: 15 (39.5%)
Patient Count: 15 (39.5%)
% of total patients presenting each phenotype is shown in parentheses.
15 (39.5%)
Long eyelashes: 15 (39.5%)
Patient Count: 15 (39.5%)
% of total patients presenting each phenotype is shown in parentheses.
15 (39.5%)
Hirsutism: 12 (31.6%)
Patient Count: 12 (31.6%)
% of total patients presenting each phenotype is shown in parentheses.
12 (31.6%)
Short stature: 9 (23.7%)
Patient Count: 9 (23.7%)
% of total patients presenting each phenotype is shown in parentheses.
9 (23.7%)