| Metadata | |
|---|---|
| ID | DOID:0060819 |
| Name | syndromic X-linked intellectual disability Chudley-Schwartz type |
| Definition | A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has_material_basis_in variation in the chromosomal region Xq21.33-q23. https://www.ncbi.nlm.nih.gov/pubmed/10398239 |
| Xrefs | |
| Synonyms |
mental retardation, X-linked, syndromic, Chudley-Schwartz type [EXACT] MRXSCS [EXACT] X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance [EXACT] |
| Parent Relationships |