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Up to: Chromosome 14 disorder · Uniparental disomy · Motor developmental delay due to 14q32.2 paternally expressed gene defect
Maternal uniparental disomy of chromosome 14
Maternal 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).
This condition has no sub-types.