FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term X-linked intellectual disability-hypotonic facies syndrome-1 ID (Ontology) DOID:0080982 (Human Disease)
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.
Also Known As "X-linked mental retardation-hypotonic facies syndrome-1"
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 X-linked intellectual disability-hypotonic facies syndrome-1       2
 for disease ribbon | X-linked intellectual disability-hypotonic facies syndrome-1       2
 model of | X-linked intellectual disability-hypotonic facies syndrome-1       2
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X-linked monogenic disease_________
syndromic intellectual disability__|
                                   syndromic X-linked intellectual disability
                                    |__X-linked intellectual disability-hypotonic facies syndrome-1  2 rec.
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MIM:309580
ORDO:73220