X-linked intellectual disability-hypotonic facies syndrome-1

Term ID

DOID:0080982

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. https://pubmed.ncbi.nlm.nih.gov/15508018/

References

• MIM:309580
• ORDO:73220

Ontology

Human Disease   ( DOID:0080982 )