chromosome 4q21 deletion syndrome
MONDO:0013292Mondo
Findings
No curated finding names chromosome 4q21 deletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.
Definition from the Mondo Disease Ontology (MONDO:0013292), read 2026-09-29. CC BY 4.0.
- Inheritance
- Sporadic
HPO, annotations 2026-09-02
Features
48 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.
- Delayed skeletal maturationHPOHP:0002750
- 1 of 1 reported patient
- DolichocephalyHPOHP:0000268
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Long philtrumHPOHP:0000343
- 1 of 1 reported patient
- Narrow mouthHPOHP:0000160
- 1 of 1 reported patient
Show the remaining 36
- Broad foreheadHPOHP:0000337
- Frequent (30% to 79% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Frequent (30% to 79% of cases)
- Frontal bossingHPOHP:0002007
- Frequent (30% to 79% of cases)
- Full cheeksHPOHP:0000293
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
- Low-set earsHPOHP:0000369
- Frequent (30% to 79% of cases)
Where it sits
Other names
4 names
Resolves to: chromosome 4q21 deletion syndrome
- Also called
- 4q21 microdeletion syndromechromosome 4q21 deletion syndrome, isolated casesDel(4)(q21)monosomy 4q21