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Metadata
ID	DOID:0080982
Name	X-linked intellectual disability-hypotonic facies syndrome-1
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. https://pubmed.ncbi.nlm.nih.gov/15508018/
Xrefs	MIM:309580 ORDO:73220
Synonyms	X-linked mental retardation-hypotonic facies syndrome-1 [EXACT]
Parent Relationships	is_a syndromic X-linked intellectual disability