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).
MONDO:0014541
motor developmental delay due to 14q32.2 paternally expressed gene defect
is_a
MONDO:0700021
chromosome 14 disorder
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MONDO:0700086
uniparental disomy
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UPD(14)mat
exact
maternal uniparental disomy of chromosome type 14
exact