Mbd5 Haploinsufficiency (MAND)

Alias:

2q23.1 Microdeletion Syndrome

2q23.1 Microduplication Syndrome

Mbd5 Associated Neurodevelopmental Disorder

Pseudo-Angelman Syndrome

Monosomy 2q23.1

Del(2)(q23.1)

Mbd5-Associated Neurodevelopmental Disorder

Trisomy 2q23.1

Dup(2)(q23.1)

Mand

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Mbd5 Haploinsufficiency, also known as 2q23.1 microdeletion syndrome, is related to microcephaly and intellectual developmental disorder, autosomal dominant 1. An important gene associated with Mbd5 Haploinsufficiency is MBD5 (Methyl-CpG Binding Domain Protein 5). Affiliated tissues include heart and eye, and related phenotypes are seizure and global developmental delay

Related ID：

MALACARDS：MBD001