Term Name: syndromic X-linked intellectual disorder Lujan-Fryns-type
Synonyms:
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.
Ontology: Human Disease [DOID:0080985]   ( DOID:0080985 )

Relationships
is a type of: syndromic X-linked intellectual disability X-linked recessive disease