1p21.3 microdeletion syndrome
MONDO:0017405Mondo
Findings
No curated finding names 1p21.3 microdeletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder.
Definition from the Mondo Disease Ontology (MONDO:0017405), read 2026-09-29. CC BY 4.0.
Features
26 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.
- Abnormal eating behaviorHPOHP:0100738
- Very frequent (80% to 99% of cases)
- Abnormality of visionHPOHP:0000504
- Very frequent (80% to 99% of cases)
- AstigmatismHPOHP:0000483
- Very frequent (80% to 99% of cases)
- Excessive shynessHPOHP:0100962
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Long earHPOHP:0400004
- Very frequent (80% to 99% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Very frequent (80% to 99% of cases)
- MyopiaHPOHP:0000545
- Very frequent (80% to 99% of cases)
- ObesityHPOHP:0001513
- Very frequent (80% to 99% of cases)
- Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
- Autistic behaviorHPOHP:0000729
- Frequent (30% to 79% of cases)
Show the remaining 14
- Broad nasal tipHPOHP:0000455
- Frequent (30% to 79% of cases)
- Deeply set eyeHPOHP:0000490
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- Full cheeksHPOHP:0000293
- Frequent (30% to 79% of cases)
- MacrocephalyHPOHP:0000256
- Frequent (30% to 79% of cases)
- Short noseHPOHP:0003196
- Frequent (30% to 79% of cases)
Where it sits
Other names
2 names
Resolves to: 1p21.3 microdeletion syndrome
- Also called
- Del(1)p(21.3)monosomy 1p21.3