maternal 14q32.2 microdeletion syndrome
MONDO:0016781Mondo
Findings
No curated finding names maternal 14q32.2 microdeletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
38 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 difficultiesHPOHP:0011968
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- 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)
- Flexion contractureHPOHP:0001371
- Frequent (30% to 79% of cases)
- Inguinal herniaHPOHP:0000023
- Frequent (30% to 79% of cases)
- Joint hypermobilityHPOHP:0001382
- Frequent (30% to 79% of cases)
- Large placentaHPOHP:0006267
- Frequent (30% to 79% of cases)
- Postnatal growth retardationHPOHP:0008897
- Frequent (30% to 79% of cases)
- Respiratory failureHPOHP:0002878
- Frequent (30% to 79% of cases)
Show the remaining 26
- Umbilical herniaHPOHP:0001537
- Frequent (30% to 79% of cases)
- Anteverted naresHPOHP:0000463
- Occasional (5% to 29% of cases)
- Broad foreheadHPOHP:0000337
- Occasional (5% to 29% of cases)
- CamptodactylyHPOHP:0012385
- Occasional (5% to 29% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Occasional (5% to 29% of cases)
- EpicanthusHPOHP:0000286
- Occasional (5% to 29% of cases)
Where it sits
Other names
2 names
Resolves to: maternal 14q32.2 microdeletion syndrome
- Also called
- maternal del(14)(q32.2)maternal monosomy 14q32.2