Kcnk9 Imprinting Syndrome

Alias:

Birk-Barel Mental Retardation Dysmorphism Syndrome

Birk-Barel Syndrome

Intellectual Disability-Hypotonia-Facial Dysmorphism Syndrome

Mental Retardation with Hypotonia and Facial Dysmorphism

Intellectual Disability, Birk-Barel Type

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Kcnk9 Imprinting Syndrome, also known as birk-barel mental retardation dysmorphism syndrome, is related to intellectual disability, birk-barel type and birk-barel syndrome. An important gene associated with Kcnk9 Imprinting Syndrome is KCNK9 (Potassium Two Pore Domain Channel Subfamily K Member 9). Affiliated tissues include cortex.

Related ID：

MALACARDS：KCN019