|Dataset||ClinVar Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|Description||An autosomal recessive disease that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding. (Human Disease Ontology, DOID_0050816)|
|Downloads & Tools|
1 genes associated with the Ochoa syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
|HPSE2||heparanase 2 (inactive)|