13q12.3 microdeletion syndrome
Findings
No curated finding names 13q12.3 microdeletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain.
Definition from the Mondo Disease Ontology (MONDO:0018474), read 2026-09-29. CC BY 4.0.
Features
30 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.
- Atopic dermatitisHPOHP:0001047
- Frequent (30% to 79% of cases)
- CamptodactylyHPOHP:0012385
- Frequent (30% to 79% of cases)
- ConstipationHPOHP:0002019
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- HyperactivityHPOHP:0000752
- Frequent (30% to 79% of cases)
- HypermetropiaHPO
Show the remaining 18
- OligodontiaHPOHP:0000677
- Frequent (30% to 79% of cases)
- Recurrent respiratory infectionsHPOHP:0002205
- Frequent (30% to 79% of cases)
- Self-mutilationHPOHP:0000742
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- Thin upper lip vermilionHPOHP:0000219
- Frequent (30% to 79% of cases)
- Underdeveloped nasal alaeHPOHP:0000430
- Frequent (30% to 79% of cases)
Where it sits
Other names
2 names
Resolves to: 13q12.3 microdeletion syndrome
- Also called
- Del(13)(q12.3)monosomy 13q12.3