20q11.2 microdeletion syndrome
Findings
No curated finding names 20q11.2 microdeletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
20q11.2 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported.
Definition from the Mondo Disease Ontology (MONDO:0018633), read 2026-09-29. CC BY 4.0.
Features
19 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.
- Deeply set eyeHPOHP:0000490
- Obligate (100% of cases)
- Global developmental delayHPOHP:0001263
- Obligate (100% of cases)
- High foreheadHPOHP:0000348
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- Abnormality of the earHPOHP:0000598
- Frequent (30% to 79% of cases)
- Abnormality of the eyeHPOHP:0000478
- Frequent (30% to 79% of cases)
- Atypical behavior
Show the remaining 7
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
- Midface retrusionHPOHP:0011800
- Frequent (30% to 79% of cases)
- Short philtrumHPOHP:0000322
- Frequent (30% to 79% of cases)
- Talipes calcaneovalgusHPOHP:0001884
- Frequent (30% to 79% of cases)
- Adducted thumbHPOHP:0001181
- Occasional (5% to 29% of cases)
Where it sits
Other names
2 names
Resolves to: 20q11.2 microdeletion syndrome
- Also called
- Del(20)(q11.2)monosomy 20q11