syndromic X-linked intellectual disorder Lujan-Fryns-type (DOID:0080985)
Alliance: disease page
Alt IDs: OMIM:309520, ORDO:776
Definition: A syndromic X-linked intellectual disability that is characterized by a tall, marfanoid stature, distinct facial dysmorphism and behavioral problems and that has_material_basis_in hemizygous mutation in the MED12 gene on chromosome Xq13. Opitz-Kaveggia syndrome is an allelic disorder with an overlapping phenotype.