Tonne-Kalscheuer syndrome

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_

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.

Signs and symptoms

• Intellectual disability
• Broad forehead
• Delayed speech and language development
• Autistic behavior
• Hypertelorism
• Feeding difficulties
• Fine hair
• Poor speech
• Short stature
• Narrow mouth

Also known as: MRX61; TOKAS; X-linked mental retardation 61; intellectual developmental disorder with or without hand and foot anomalies, genital anomalies, or congenital diaphragmatic hernia