Term Name: | Tonne-Kalscheuer syndrome |
---|---|
Synonyms: | intellectual developmental disorder with or without hand and foot anomalies, genital anomalies, or congenital diaphragmatic hernia, MRX61, TOKAS, X-linked mental retardation 61 |
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. |
Ontology: | Human Disease [DOID:0112042] ( DOID:0112042 ) |