3p25.3 microdeletion syndrome
MONDO:0018564Mondo
Findings
No curated finding names 3p25.3 microdeletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.
Definition from the Mondo Disease Ontology (MONDO:0018564), read 2026-09-29. CC BY 4.0.
Features
51 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.
- Motor delayHPOHP:0001270
- Very frequent (80% to 99% of cases)
- Abnormality of the outer earHPOHP:0000356
- Frequent (30% to 79% of cases)
- Absent speechHPOHP:0001344
- Frequent (30% to 79% of cases)
- Deep philtrumHPOHP:0002002
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Frequent (30% to 79% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
- Motor stereotypyHPOHP:0000733
- Frequent (30% to 79% of cases)
- Prominent noseHPOHP:0000448
- Frequent (30% to 79% of cases)
- 2-3 finger cutaneous syndactylyHPOHP:0001233
- Occasional (5% to 29% of cases)
- Abnormal thalamus morphologyHPOHP:0010663
- Occasional (5% to 29% of cases)
Show the remaining 39
- AcromesomeliaHPOHP:0003086
- Occasional (5% to 29% of cases)
- Anteverted naresHPOHP:0000463
- Occasional (5% to 29% of cases)
- AtaxiaHPOHP:0001251
- Occasional (5% to 29% of cases)
- Atrial septal defectHPOHP:0001631
- Occasional (5% to 29% of cases)
- Attention deficit hyperactivity disorderHPOHP:0007018
- Occasional (5% to 29% of cases)
- Autistic behaviorHPOHP:0000729
- Occasional (5% to 29% of cases)
Where it sits
Other names
3 names
Resolves to: 3p25.3 microdeletion syndrome
- Also called
- Del(3)p(25.3)intellectual disability-epilepsy-stereotypic hand movement syndromemonosomy 3p25.3