Clark-Baraitser Syndrome (CLABARS)

Alias:

Clabars

Autosomal Dominant Intellectual Disability 49

Baraitser Syndrome

Intellectual Developmental Disorder, Autosomal Dominant 49

Mental Retardation, Autosomal Dominant 49, Formerly

Autosomal Dominant Mental Retardation 49

Progeria Short Stature Pigmented Nevi

Mrd49, Formerly

Mrd49

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Clark-Baraitser Syndrome, also known as clabars, is related to nicolaides-baraitser syndrome and familial isolated trichomegaly, and has symptoms including unspecified visual loss and seizures. An important gene associated with Clark-Baraitser Syndrome is TRIP12 (Thyroid Hormone Receptor Interactor 12), and among its related pathways/superpathways are Gene expression (Transcription) and RNA Polymerase I Promoter Opening. Affiliated tissues include tongue and skin, and related phenotypes are intellectual disability and global developmental delay

Related ID：

MALACARDS：CLR029

OMIM：617752

MESH：C536208