distal monosomy 12q
MONDO:0019897Mondo
Findings
No curated finding names distal monosomy 12q yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
76 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.
- 2-3 toe syndactylyHPOHP:0004691
- Occasional (5% to 29% of cases)
- Abnormal facial shapeHPOHP:0001999
- Occasional (5% to 29% of cases)
- Annular pancreasHPOHP:0001734
- Occasional (5% to 29% of cases)
- Anteverted naresHPOHP:0000463
- Occasional (5% to 29% of cases)
- Aplasia/Hypoplasia of the middle phalanx of the 3rd fingerHPOHP:0009437
- Occasional (5% to 29% of cases)
- Bilateral conductive hearing impairmentHPOHP:0008513
- Occasional (5% to 29% of cases)
- Biliary atresiaHPOHP:0005912
- Occasional (5% to 29% of cases)
- BrachycephalyHPOHP:0000248
- Occasional (5% to 29% of cases)
- Broad halluxHPOHP:0010055
- Occasional (5% to 29% of cases)
- BronchodysplasiaHPOHP:0006533
- Occasional (5% to 29% of cases)
- Bulbous noseHPOHP:0000414
- Occasional (5% to 29% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Occasional (5% to 29% of cases)
Show the remaining 64
- Coarse facial featuresHPOHP:0000280
- Occasional (5% to 29% of cases)
- Congenital hypertrophy of left ventricleHPOHP:0005129
- Occasional (5% to 29% of cases)
- Delayed gross motor developmentHPOHP:0002194
- Occasional (5% to 29% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Occasional (5% to 29% of cases)
- Diabetes mellitusHPOHP:0000819
- Occasional (5% to 29% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
Where it sits
Other names
4 names
Resolves to: distal monosomy 12q
- Also called
- distal deletion 12qdistal monosomy type 12qmonosomy 12qtertelomeric deletion 12q