motor developmental delay due to 14q32.2 paternally expressed gene defect
MONDO:0014541Mondo
Findings
No curated finding names motor developmental delay due to 14q32.2 paternally expressed gene defect yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A cause of obesity that results from inheritance of two copies of chromosome 14 from the mother, and no copy of chromosome 14 from the father.
Definition from the Mondo Disease Ontology (MONDO:0014541), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
44 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
- 38 of 41 reported patients
- Small handHPOHP:0200055
- 34 of 39 reported patients
- Very frequent (80% to 99% of cases)
- Small for gestational ageHPOHP:0001518
- 33 of 38 reported patients
- Very frequent (80% to 99% of cases)
- Precocious pubertyHPOHP:0000826
- 19 of 22 reported patients
- Very frequent (80% to 99% of cases)
- Motor delayHPOHP:0001270
- 34 of 41 reported patients
- Very frequent (80% to 99% of cases)
- Floppy infantHPOHP:0008947
Show the remaining 32
- Feeding difficulties in infancyHPOHP:0008872
- Frequent (30% to 79% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Frequent (30% to 79% of cases)
- Nasogastric tube feedingHPOHP:0040288
- Frequent (30% to 79% of cases)
- ObesityHPOHP:0001513
- 20 of 41 reported patients
- Frequent (30% to 79% of cases)
- Premature birthHPOHP:0001622
- 12 of 40 reported patients
- Frequent (30% to 79% of cases)
- Relative macrocephalyHPOHP:0004482
Where it sits
- A kind of
Other names
2 names
Resolves to: motor developmental delay due to 14q32.2 paternally expressed gene defect
- Also called
- maternal uniparental disomy chromosome 14 syndromemUPD14 syndrome