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Disease Ontology Browser
Kleefstra Syndrome (DOID:0070075)
Alliance: disease page
Synonyms: 9q subtelomeric deletion syndrome; 9q-syndrome; chromosome 9q34.3 deletion syndrome
Alt IDs: OMIM:610253
Definition: An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.12
The Jackson Laboratory