| Metadata | |
|---|---|
| ID | DOID:0060809 |
| Name | syndromic X-linked intellectual disability Claes-Jensen type |
| Definition | 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. https://www.ncbi.nlm.nih.gov/pubmed/10982473, https://www.ncbi.nlm.nih.gov/pubmed/15586325 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
mental retardation, X-linked, syndromic, Claes-Jensen type [EXACT] MRXSCJ [EXACT] MRXSJ [EXACT] syndromic X-linked intellectual disability due to JARID1C mutation [EXACT] syndromic X-linked mental retardation JARID1C-related [EXACT] |
| Parent Relationships |