Term Name: | syndromic X-linked intellectual disorder Lujan-Fryns-type |
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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 ) |