maternal uniparental disomy of chromosome 14
Findings
No curated finding names maternal uniparental disomy of chromosome 14 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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).
Definition from the Mondo Disease Ontology (MONDO:0019915), read 2026-09-29. CC BY 4.0.
Features
35 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Motor delayHPOHP:0001270
- Very frequent (80% to 99% of cases)
- Postnatal growth retardationHPOHP:0008897
- Very frequent (80% to 99% of cases)
- Precocious pubertyHPOHP:0000826
- Very frequent (80% to 99% of cases)
- Short footHPOHP:0001773
- Very frequent (80% to 99% of cases)
- Small handHPOHP:0200055
- Very frequent (80% to 99% of cases)
- Delayed speech and language development
Show the remaining 23
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- Small for gestational ageHPOHP:0001518
- Frequent (30% to 79% of cases)
- Truncal obesityHPOHP:0001956
- Frequent (30% to 79% of cases)
- Anteverted naresHPOHP:0000463
- Occasional (5% to 29% of cases)
- Bifid uvulaHPOHP:0000193
- Occasional (5% to 29% of cases)
- Cleft palateHPOHP:0000175
- Occasional (5% to 29% of cases)
Where it sits
Other names
2 names
Resolves to: maternal uniparental disomy of chromosome 14
- Also called
- maternal uniparental disomy of chromosome type 14UPD(14)mat