syndromic X-linked intellectual disorder Lujan-Fryns-type

Term ID

DOID:0080985

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. (2)

References

• GARD:3307
• MIM:309520
• ORDO:776

Ontology

Human Disease   ( DOID:0080985 )