8p inverted duplication/deletion syndrome
Findings
No curated finding names 8p inverted duplication/deletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum.
Definition from the Mondo Disease Ontology (MONDO:0019876), read 2026-09-29. CC BY 4.0.
Features
56 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 facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Abnormality of chromosome segregationHPOHP:0002916
- Very frequent (80% to 99% of cases)
- Anteverted naresHPOHP:0000463
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
- Everted lower lip vermilionHPOHP:0000232
- Very frequent (80% to 99% of cases)
- Floppy infantHPOHP:0008947
- Very frequent (80% to 99% of cases)
Show the remaining 44
- Pectus excavatumHPOHP:0000767
- Very frequent (80% to 99% of cases)
- Prominent foreheadHPOHP:0011220
- Very frequent (80% to 99% of cases)
- Severe global developmental delayHPOHP:0011344
- Very frequent (80% to 99% of cases)
- Severe intellectual disabilityHPOHP:0010864
- Very frequent (80% to 99% of cases)
- Spastic tetraplegiaHPOHP:0002510
- Very frequent (80% to 99% of cases)
- Wide mouthHPOHP:0000154
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of
Other names
2 names
Resolves to: 8p inverted duplication/deletion syndrome
- Also called
- Invdupdel(8p)inverted 8p duplication/deletion syndrome