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syndromic X-linked intellectual disability Hedera type
Summary
- Synonym
-
- MRXE
- MRXSH
- X-linked mental retardation with epilepsy
- mental retardation, X-linked, syndromic, Hedera type
- Definition
- A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11.
- Super Class
- syndromic X-linked intellectual disability
External Links
- Disease Ontology
- DOID:0060806
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001621 | Weak voice |
| HP:0011812 | Agraphesthesia |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0001288 | Gait disturbance |
| HP:0002600 | Hyporeflexia of lower limbs |
| HP:0000338 | Hypomimic face |
| HP:0002307 | Drooling |
| HP:0003487 | Babinski sign |
| HP:0001513 | Obesity |
| HP:0010819 | Atonic seizure |
