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X-linked intellectual disability-hypotonic facies syndrome-1 (DOID:0080982)
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Synonyms: X-linked mental retardation-hypotonic facies syndrome-1
Alt IDs: OMIM:309580, ORDO:73220
Definition: A syndromic X-linked intellectual disability that is characterized primarily by severely impaired intellectual development, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women and that has_material_basis_in mutation in the ATRX gene on chromosome Xq13. This now comprises several syndromes previously reported separately, including Carpenter-Waziri syndrome, Holmes-Gang syndrome, and Smith-Fineman-Myers syndrome.

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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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07/29/2025
MGI 6.24 		The Jackson Laboratory