17q11.2 microduplication syndrome
MONDO:0015350Mondo
Findings
No curated finding names 17q11.2 microduplication syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.
Definition from the Mondo Disease Ontology (MONDO:0015350), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
34 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.
- Alopecia of scalpHPOHP:0002293
- 2 of 2 reported patients
- Bifid nasal tipHPOHP:0000456
- 2 of 2 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- Enamel hypoplasiaHPOHP:0006297
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- 7 of 7 reported patients
- Frequent (30% to 79% of cases)
- MacroorchidismHPOHP:0000053
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
Show the remaining 22
- MicrocephalyHPOHP:0000252
- 1 of 7 reported patients
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- 1 of 7 reported patients
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- 3 of 6 reported patients
- Occasional (5% to 29% of cases)
- Bifid noseHPOHP:0011803
- Occasional (5% to 29% of cases)
- Deviated nasal septumHPOHP:0004411
- Occasional (5% to 29% of cases)
- Thick nasal alaeHPOHP:0009928
Where it sits
Other names
6 names
Resolves to: 17q11.2 microduplication syndrome
- Also called
- chromosome 17q11.2 duplication syndrome, 1.4-mbdup(17)(q11.2)Grisart-Destree syndromeGrisart-Destrée syndromeNf1 Microduplication Syndrometrisomy 17q11.2