Koolen-De Vries Syndrome (KDVS)

Alias:

Kdvs

17q21.31 Microdeletion Syndrome

Chromosome 17q21.31 Deletion Syndrome

Microdeletion 17q21.31 Syndrome

Kansl1-Related Intellectual Disability Syndrome

Chromosome 17q21.31 Microdeletion Syndrome

Koolen De Vries Syndrome

Monosomy 17q21.31

17q21.31 Deletion Syndrome

Koolen Syndrome

Del(17)(q21.31)

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Koolen-De Vries Syndrome, also known as kdvs, is related to koolen-de vries syndrome due to a point mutation and hypotonia, and has symptoms including dry skin An important gene associated with Koolen-De Vries Syndrome is KANSL1 (KAT8 Regulatory NSL Complex Subunit 1), and among its related pathways/superpathways is Formation of WDR5-containing histone-modifying complexes. Affiliated tissues include heart and testes, and related phenotypes are intellectual disability and ptosis

Related ID：

MALACARDS：KLN006

OMIM：610443

MESH：D000015