Tonne-Kalscheuer Syndrome (TOKAS)

Alias:

Tokas

Mrx61

Intellectual Developmental Disorder with or Without Hand and Foot Anomalies, Genital Anomalies, or Congenital Diaphragmatic Hernia

Intellectual Disability, X-Linked 61

Mental Retardation, X-Linked 61

X-Linked Mental Retardation 61

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Tonne-Kalscheuer Syndrome, also known as tokas, is related to fryns syndrome and diaphragmatic hernia, congenital. An important gene associated with Tonne-Kalscheuer Syndrome is RLIM (Ring Finger Protein, LIM Domain Interacting). Affiliated tissues include lung and brain, and related phenotypes are intellectual disability and delayed speech and language development

Related ID：

MALACARDS：TNN015

OMIM：300978

MESH：D038901