chromosome 14q11-q22 deletion syndrome
MONDO:0013272Mondo
Findings
No curated finding names chromosome 14q11-q22 deletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.
Definition from the Mondo Disease Ontology (MONDO:0013272), read 2026-09-29. CC BY 4.0.
- Inheritance
- Sporadic
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
58 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.
- Depressed nasal bridgeHPOHP:0005280
- Very frequent (80% to 99% of cases)
- Everted lower lip vermilionHPOHP:0000232
- Very frequent (80% to 99% of cases)
- Exaggerated cupid's bowHPOHP:0002263
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- 1 of 9 reported patients
- Very frequent (80% to 99% of cases)
- Long philtrumHPOHP:0000343
- 2 of 9 reported patients
- Very frequent (80% to 99% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Very frequent (80% to 99% of cases)
Show the remaining 46
- Deeply set eyeHPOHP:0000490
- Frequent (30% to 79% of cases)
- EpicanthusHPOHP:0000286
- Frequent (30% to 79% of cases)
- High palateHPOHP:0000218
- Frequent (30% to 79% of cases)
- Highly arched eyebrowHPOHP:0002553
- Frequent (30% to 79% of cases)
- Melanocytic nevusHPOHP:0000995
- Frequent (30% to 79% of cases)
- MicrognathiaHPOHP:0000347
- Frequent (30% to 79% of cases)
Where it sits
Other names
4 names
Resolves to: chromosome 14q11-q22 deletion syndrome
- Also called
- 14q11.2 microdeletion syndromechromosome 14q11-q22 deletion syndrome, isolated casesDel(14)(q11.2)monosomy 14q11.2