X-linked intellectual disability-psychosis-macroorchidism syndrome
Information
- Disease name
- X-linked intellectual disability-psychosis-macroorchidism syndrome
- Disease ID
- DOID:0060827
- Description
- "A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has_material_basis_in mutation in the MECP2 gene on chromosome Xq28." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10986043, url:https\://www.ncbi.nlm.nih.gov/pubmed/8651288]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0060309
- Cross Reference ID (Disease Ontology)
- ICD10CM:F71.1
- Cross Reference ID (Disease Ontology)
- MIM:300055
- Cross Reference ID (Disease Ontology)
- ORDO:3077
- Exact Synonym (Disease Ontology)
- Lindsay-Burn syndrome
- Exact Synonym (Disease Ontology)
- mental retardation with psychosis, pyramidal signs, and macroorchidism
- Exact Synonym (Disease Ontology)
- mental retardation, X-linked, syndromic 13
- Exact Synonym (Disease Ontology)
- MRXS13
- Exact Synonym (Disease Ontology)
- PPM-X
- Exact Synonym (Disease Ontology)
- X-linked mental retardation 79
- Exact Synonym (Disease Ontology)
- X-linked mental retardation with spasticity
- OrphaNumber from OrphaNet (Orphanet)
- 3077