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maternal 14q32.2 microdeletion syndrome | RareConnect | RareConnect.io

/multiple congenital anomalies due to 14q32.2 maternally expressed gene defect

/maternal 14q32.2 microdeletion syndrome

maternal 14q32.2 microdeletion syndrome

Rare Disease

MONDO:0016781

Also Known As

maternal del(14)(q32.2)maternal monosomy 14q32.2

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External Resources

Orphanet

Orphanet:254528 ↗

GARD

Related Diseases

paternal uniparental disomy of chromosome 14

MONDO:0011975

maternal 14q32.2 hypermethylation syndrome

MONDO:0016783

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