9p13 microdeletion syndrome
Findings
No curated finding names 9p13 microdeletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia).
Definition from the Mondo Disease Ontology (MONDO:0017928), read 2026-09-29. CC BY 4.0.
Features
32 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.
- Anteverted naresHPOHP:0000463
- Very frequent (80% to 99% of cases)
- Attention deficit hyperactivity disorderHPOHP:0007018
- Very frequent (80% to 99% of cases)
- Atypical behaviorHPOHP:0000708
- Very frequent (80% to 99% of cases)
- BruxismHPOHP:0003763
- Very frequent (80% to 99% of cases)
- MicroretrognathiaHPOHP:0000308
- Very frequent (80% to 99% of cases)
- Mild global developmental delayHPOHP:0011342
- Very frequent (80% to 99% of cases)
Show the remaining 20
- Low-set earsHPOHP:0000369
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- Absent palmar creaseHPOHP:0010489
- Occasional (5% to 29% of cases)
- Cafe-au-lait spotHPOHP:0000957
- Occasional (5% to 29% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Occasional (5% to 29% of cases)
- Dry skinHPOHP:0000958
- Occasional (5% to 29% of cases)
Where it sits
Other names
2 names
Resolves to: 9p13 microdeletion syndrome
- Also called
- Del(9)(p13)monosomy 9p13