Skraban-Deardorff Syndrome (SKDEAS)

Alias:

Intellectual Disability with Seizures, Abnormal Gait, and Distinctive Facial Features

Skdeas

Intellectual Disability, Seizures, Abnormal Gait and Distinctive Facial Features

Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Skraban-Deardorff Syndrome, also known as intellectual disability with seizures, abnormal gait, and distinctive facial features, is related to chromosome 1q41-q42 deletion syndrome and visual epilepsy. An important gene associated with Skraban-Deardorff Syndrome is WDR26 (WD Repeat Domain 26). Affiliated tissues include brain and pineal, and related phenotypes are intellectual disability and seizure

Related ID：

MALACARDS：SKR001

OMIM：617616

MESH：D008607