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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:0001712 | Left ventricular hypertrophy |
| HP:0002063 | Rigidity |
| HP:0001265 | Hyporeflexia |
| HP:0002527 | Falls |
| HP:0001300 | Parkinsonism |
| HP:0000341 | Narrow forehead |
| HP:0001419 | X-linked recessive inheritance |
| HP:0001257 | Spasticity |
| HP:0003593 | Infantile onset |
| HP:0002059 | Cerebral atrophy |
