chromosome 17p13.3 duplication syndrome
MONDO:0013182Mondo
Findings
No curated finding names chromosome 17p13.3 duplication syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.
Definition from the Mondo Disease Ontology (MONDO:0013182), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Contiguous gene syndrome
HPO, annotations 2026-09-02
Features
57 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.
- Frontal bossingHPOHP:0002007
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- 5 of 7 reported patients
- Very frequent (80% to 99% of cases)
- High foreheadHPOHP:0000348
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- 3 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Narrow mouthHPOHP:0000160
- Very frequent (80% to 99% of cases)
Show the remaining 45
- SynophrysHPOHP:0000664
- 3 of 7 reported patients
- Thin upper lip vermilionHPOHP:0000219
- 3 of 7 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- Occasional (5% to 29% of cases)
- Congenital hip dislocationHPOHP:0001374
- Occasional (5% to 29% of cases)
- High palateHPOHP:0000218
- 2 of 7 reported patients
- Occasional (5% to 29% of cases)
- Hypoplasia of penisHPOHP:0008736
- Occasional (5% to 29% of cases)
Where it sits
Other names
4 names
Resolves to: chromosome 17p13.3 duplication syndrome
- Also called
- 17p13.3 duplication syndrome17p13.3 microduplication syndromedup(17)(p13.3)trisomy 17p13.3