syndromic X-linked intellectual disability Claes-Jensen type
Information
- Disease name
- syndromic X-linked intellectual disability Claes-Jensen type
- Disease ID
- DOID:0060809
- Description
- "A syndromic X-linked intellectual disability characterized by severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioral problems that has_material_basis_in mutation in the KDM5C gene on chromosome Xp11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10982473, url:https\://www.ncbi.nlm.nih.gov/pubmed/15586325]
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:Q87.8
- Cross Reference ID (Disease Ontology)
- MIM:300534
- Cross Reference ID (Disease Ontology)
- ORDO:85279
- Exact Synonym (Disease Ontology)
- mental retardation, X-linked, syndromic, Claes-Jensen type
- Exact Synonym (Disease Ontology)
- MRXSCJ
- Exact Synonym (Disease Ontology)
- MRXSJ
- Exact Synonym (Disease Ontology)
- syndromic X-linked intellectual disability due to JARID1C mutation
- Exact Synonym (Disease Ontology)
- syndromic X-linked mental retardation JARID1C-related