Syndromic X-Linked Intellectual Disorder Lujan-Fryns-Type
Disease ID: disease_node_13598
Connections displayed (default: 10).
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| Dbxref | GARD:3307, MIM:309520, ORDO:776 |
|---|---|
| Subclassof | DOID_0080012, DOID_0060309 |
| Data Source | DOID |
| Doid Label | syndromic X-linked intellectual disorder Lujan-Fryns-type |
| Doid Description | 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. |
| Has Phenotype | HP_0001999 |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_13598 |
| Doid Id | DOID_0080985 |
| Label | Syndromic X-Linked Intellectual Disorder Lujan-Fryns-Type |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndromic X-Linked Intellectual Disability(ID:disease_node_13590) (Disease)