3billion
back to listBack to List

MPZL2

myelin protein zero like 2

HCNC Approved Symbol
MPZL2 (HGNC:3496)
Genomic Coordinates
11:118,253,416 - 118,264,297 (11q23.3)
Synonyms
EVA, EVA1
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

37Patients

In total, 37 patients were diagnosed with a variant in the MPZL2 gene.

Frequently observed phenotypes

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

Hearing loss
 23 (62.2%)
Hearing impairment
 
5 (13.5%)
Imperforate anus
 
2 (5.4%)
Microtia
 
2 (5.4%)
Polydactyly
 
2 (5.4%)
MPZL2 - Gene browser | 3billion