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MIRAGE
non-syndromic X-linked intellectual disability 63
Summary
- Synonym
-
- ACSL4-related intellectual disability
- MRX63
- MRX68
- X-linked mental retardation 63
- X-linked mental retardation 68
- Definition
- A non-syndromic X-linked intellectual disability characterized by moderate to severe nonprogressive intellectual disability in males and moderate intellectual disability to normal intelligence in females that has_material_basis_in heterozygous mutation in the ACSL4 gene on chromosome Xq23.
- Super Class
- X-linked dominant disease non-syndromic X-linked intellectual disability
External Links
- Disease Ontology
- DOID:0112050
- Mondo Disease Ontology
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60488 | Long-chain-fatty-acid--CoA ligase 4 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000750 | Delayed speech and language development |
| HP:0001423 | X-linked dominant inheritance |
| HP:0000729 | Autistic behavior |
| HP:0001252 | Hypotonia |
| HP:0000252 | Microcephaly |
| HP:0001347 | Hyperreflexia |
| HP:0000739 | Anxiety |
| HP:0011463 | Childhood onset |
| HP:0001249 | Intellectual disability |
