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ABHD12

abhydrolase domain containing 12, lysophospholipase

HCNC Approved Symbol
ABHD12 (HGNC:15868)
Genomic Coordinates
20:25,294,743 - 25,390,835 (20p11.21)
Synonyms
DKFZP434P106, dJ965G21.2, BEM46L2, ABHD12A, C20orf22
Disease Associations
This gene is associated with the following 1 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
612674AR

Diagnosed Cases

0Patient

There are no patients diagnosed with a variant in the ABHD12 gene.

Frequently observed phenotypes

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

No Results