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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:0001848 | Calcaneovalgus deformity |
| HP:0001272 | Cerebellar atrophy |
| HP:0002540 | Inability to walk |
| HP:0012391 | Hyporeflexia of upper limbs |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0001310 | Dysmetria |
| HP:0002650 | Scoliosis |
| HP:0001249 | Intellectual disability |
| HP:0002345 | Action tremor |
| HP:0010527 | Astereognosis |
