| Metadata | |
|---|---|
| ID | DOID:0112056 |
| Name | X-linked intellectual disability-short stature-overweight syndrome |
| Definition | A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability often associated with speech delay, short stature, elevated body mass index, and a truncal obesity pattern in older males that has_material_basis_in hemizygous mutation in the THOC2 gene on chromosome Xq25. https://pubmed.ncbi.nlm.nih.gov/26166480/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Kumar type of X-linked syndromic intellectual developmental disorder [EXACT] MRX12 [EXACT] MRX35 [EXACT] X-linked mental retardation 12 [EXACT] X-linked mental retardation 35 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance |