monosomy 9q22.3
MONDO:0019179Mondo
Findings
No curated finding names monosomy 9q22.3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.
Definition from the Mondo Disease Ontology (MONDO:0019179), read 2026-09-29. CC BY 4.0.
Features
46 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.
- Abnormal rib morphologyHPOHP:0000772
- Very frequent (80% to 99% of cases)
- Abnormality of the vertebral columnHPOHP:0000925
- Very frequent (80% to 99% of cases)
- Basal cell carcinomaHPOHP:0002671
- Very frequent (80% to 99% of cases)
- Calcification of falx cerebriHPOHP:0005462
- Very frequent (80% to 99% of cases)
- Cardiac fibromaHPOHP:0010617
- Very frequent (80% to 99% of cases)
- CataractHPOHP:0000518
- Very frequent (80% to 99% of cases)
- EpicanthusHPOHP:0000286
- Very frequent (80% to 99% of cases)
- Feeding difficultiesHPOHP:0011968
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- HyperactivityHPOHP:0000752
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
Show the remaining 34
- Large for gestational ageHPOHP:0001520
- Very frequent (80% to 99% of cases)
- Low-set earsHPOHP:0000369
- Very frequent (80% to 99% of cases)
- MacrocephalyHPOHP:0000256
- Very frequent (80% to 99% of cases)
- MedulloblastomaHPOHP:0002885
- Very frequent (80% to 99% of cases)
- Metopic synostosisHPOHP:0011330
- Very frequent (80% to 99% of cases)
- MicrophthalmiaHPOHP:0000568
- Very frequent (80% to 99% of cases)
Where it sits
Other names
1 name
Resolves to: monosomy 9q22.3
- Also called
- microdeletion 9q22.3