| Metadata | |
|---|---|
| ID | DOID:0112042 |
| Name | Tonne-Kalscheuer syndrome |
| Definition | A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities in most patients and variable congenital anomalies in some patients that has_material_basis_in mutation in the RLIM gene on chromosome Xq13.2. https://pubmed.ncbi.nlm.nih.gov/25735484/, https://pubmed.ncbi.nlm.nih.gov/29728705/ |
| Xrefs | |
| Synonyms |
intellectual developmental disorder with or without hand and foot anomalies, genital anomalies, or congenital diaphragmatic hernia [EXACT] MRX61 [EXACT] TOKAS [EXACT] X-linked mental retardation 61 [EXACT] |
| Parent Relationships |