OBO ID: DOID:0080985 |
Term Name: | syndromic X-linked intellectual disorder Lujan-Fryns-type | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0080985 ) |
OTHER syndromic X-linked intellectual disorder Lujan-Fryns-type PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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