Tonne-Kalscheuer syndrome

Term ID

DOID:0112042

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. (2)

References

• OMIM:300978

Ontology

Human Disease   ( DOID:0112042 )