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Disease Ontology Browser
Harel-Yoon syndrome (DOID:0081395)
Alliance: disease page
Synonyms: Ocular anomalies-axonal neuropathy-developmental delay syndrome
Alt IDs: OMIM:617183, ORDO:496790
Definition: A syndrome that is characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy and that has_material_basis_in heterozygous mutation in the ATAD3A gene on chromosome 1p36.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory