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MVK

mevalonate kinase

HCNC Approved Symbol
MVK (HGNC:7530)
Genomic Coordinates
12:109,573,272 - 109,598,125 (12q24.11)
Synonyms
LRBP, MK
Disease Associations
This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

6Patients

In total, 6 patients were diagnosed with a variant in the MVK gene.

Frequently observed phenotypes

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

Broad flat nasal bridge
 2 (33.3%)
Developmental delay
 2 (33.3%)
Epicanthal fold
 2 (33.3%)
Intellectual disability, mild
 2 (33.3%)
Iron deficiency anemia
 2 (33.3%)
MVK - Gene browser | 3billion