PHIP - Gene browser

PHIP

pleckstrin homology domain interacting protein

HCNC Approved Symbol: PHIP (HGNC:15673)
Genomic Coordinates: 6:78,934,419 - 79,078,254 (6q14.1)
Synonyms: ndrp, FLJ20705, DCAF14, BRWD2, WDR11
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

17Patients

In total, 17 patients were diagnosed with a variant in the PHIP gene.

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

017
Patient count

Intellectual disability: 5 (29.4%)
Patient Count: 5 (29.4%)
% of total patients presenting each phenotype is shown in parentheses.
5 (29.4%)
Obesity: 3 (17.6%)
Patient Count: 3 (17.6%)
% of total patients presenting each phenotype is shown in parentheses.
3 (17.6%)
Developmental delay: 3 (17.6%)
Patient Count: 3 (17.6%)
% of total patients presenting each phenotype is shown in parentheses.
3 (17.6%)
Facial dysmorphism: 2 (11.8%)
Patient Count: 2 (11.8%)
% of total patients presenting each phenotype is shown in parentheses.
2 (11.8%)
Strabismus: 2 (11.8%)
Patient Count: 2 (11.8%)
% of total patients presenting each phenotype is shown in parentheses.
2 (11.8%)