maternal 14q32.2 hypermethylation syndrome
MONDO:0016783Mondo
Findings
No curated finding names maternal 14q32.2 hypermethylation syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
19 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.
- Coat hanger sign of ribsHPOHP:0006665
- Very frequent (80% to 99% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Large placentaHPOHP:0006267
- Very frequent (80% to 99% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Very frequent (80% to 99% of cases)
- PolyhydramniosHPOHP:0001561
- Very frequent (80% to 99% of cases)
- Thoracic hypoplasiaHPOHP:0005257
- Very frequent (80% to 99% of cases)
- Diastasis rectiHPOHP:0001540
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
- Large for gestational ageHPOHP:0001520
- Frequent (30% to 79% of cases)
- Poor suckHPOHP:0002033
- Frequent (30% to 79% of cases)
- Postnatal growth retardationHPOHP:0008897
- Frequent (30% to 79% of cases)
Show the remaining 7
- Abnormal heart morphologyHPOHP:0001627
- Occasional (5% to 29% of cases)
- Delayed gross motor developmentHPOHP:0002194
- Occasional (5% to 29% of cases)
- OmphaloceleHPOHP:0001539
- Occasional (5% to 29% of cases)
- OvergrowthHPOHP:0001548
- Occasional (5% to 29% of cases)
- Small for gestational ageHPOHP:0001518
- Occasional (5% to 29% of cases)
- Umbilical herniaHPOHP:0001537
- Occasional (5% to 29% of cases)