Temple-Baraitser Syndrome (TMBTS)

Alias:

Tmbts

Severe Intellectual Disability-Aplasia/hypoplasia of Thumb and Hallux Syndrome

Mental Retardation, Severe, and Absent Nails of Hallux and Pollex

Tbs

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Temple-Baraitser Syndrome, also known as tmbts, is related to townes-brocks syndrome and clark-baraitser syndrome, and has symptoms including seizures An important gene associated with Temple-Baraitser Syndrome is KCNH1 (Potassium Voltage-Gated Channel Subfamily H Member 1). Affiliated tissues include skin and brain, and related phenotypes are seizure and eeg abnormality

Related ID：

MALACARDS：TMP011

OMIM：611816

MESH：D008607