On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

A change in this gene was identified in a male, age 6 with global developmental delay, problems with coordination (ataxia) and repetitive, uncontrolled eye movements (downbeat nystagmus) (read full description). 

Date of Report

Aug 06, 2020

Full Name

diacylglycerol lipase alpha

Chromosome 11 (11q12.2)


This gene codes for a diacylglycerol whose role is to synthesize the endocannabinoid 2-arachidonoyl-glycerol. This enzyme plays a role in axonal growth during development and synaptic signaling (Bisogno et al., 2003).

Database Links

GeneCards: GC11P061680

NCBI Gene: 747

OMIM: 614015

UniProtKB/Swiss-Prot: Q9Y4D2

Clinical Significance

A change in this gene was identified in a UDN participant. Contact the UDN if you or someone you know has a variant in this gene.

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
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