Maternal uniparental disomy of chromosome 14
MONDO:0019915Maternal 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).
Also known as: UPD(14)mat, maternal uniparental disomy of chromosome type 14
2 clinical trials for this condition and its sub-types.
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Disease
(618)
Syndromic disease
(24)
Human disease
(14)
Chromosomal disorder
(12)
Disease of genetic or genomic mechanism
(2)
Autosomal anomaly
(0)
Chromosome 14 disorder
(0)
Disease by body system or component
(0)
Disease by etiologic mechanism
(0)
Motor developmental delay due to 14q32.2 paternally expressed gene defect
(0)