WormBase Tree Display for DO_term: DOID:0080985
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| DOID:0080985 | Name | syndromic X-linked intellectual disorder Lujan-Fryns-type | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Parent | Is_a | DOID:0060309 | |||
| DOID:0080012 | |||||
| DB_info | Database | OMIM | disease | 309520 | |
| Attribute_of | Gene_by_orthology | WBGene00001081 |
