Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb

Alias:

Chromosome 16p12.2-P11.2 Deletion Syndrome

16p11.2p12.2 Microdeletion Syndrome

Chromosome Deletion Syndrome 16p12.2-P11.2

16p11.2-P12.2 Microdeletion Syndrome

Monosomy 16p11.2p12.2

Del(16)(p11.2p12.2)

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb, also known as chromosome 16p12.2-p11.2 deletion syndrome, is related to myasthenic syndrome, congenital, 6, presynaptic. An important gene associated with Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb is DEL16P12.1P11.2 (Chromosome 16p12.2-P11.2 Deletion Syndrome), and among its related pathways/superpathways is 10q11.21q11.23 copy number variation syndrome. Affiliated tissues include heart and eye, and related phenotypes are global developmental delay and chronic otitis media

Related ID：

MALACARDS：CHR586

OMIM：613604