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syndromic X-linked intellectual disability type 10 (DOID:0060810)
Synonyms: X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome; HSD10 deficiency, atypical type; HSD10 disease, atypical type; mental retardation, X-linked syndromic 10; MRXS10
Alt IDs: OMIM:300220, ICD10CM:G25.5, ORDO:85295
Definition: A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22.


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/14/2017
MGI 6.08
The Jackson Laboratory