Term Name:	X-linked intellectual disability-hypotonic facies syndrome-1
Synonyms:	X-linked mental retardation-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.
Ontology:	Human Disease [DOID:0080982]   ( DOID:0080982 )