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syndromic X-linked intellectual disability type 10 (DOID:0060810)
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Synonyms: HSD10 deficiency, atypical type; HSD10 disease, atypical type; mental retardation, X-linked syndromic 10; MRXS10; X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome
Alt IDs: OMIM:300438, 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 Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
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