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Maternal uniparental disomy of chromosome 14
rareMaternal uniparental disomy of chromosome 14 is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum).
- Identifiers
- MONDO:0019915 Orphanet:96184
- Part of
- Chromosome 14 disorderMotor developmental delay due to 14q32.2 paternally expressed gene defectUniparental disomy
- Also known as
- maternal uniparental disomy of chromosome type 14 · UPD(14)mat
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