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maternal uniparental disomy of chromosome 14

Disease Summary
Associated Targets ()

Mondo Description 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).
Mondo Term and Equivalent IDs
MONDO:0019915:  maternal uniparental disomy of chromosome 14
Orphanet:96184: