6q terminal deletion syndrome
MONDO:0019164Mondo
Findings
No curated finding names 6q terminal deletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.
Definition from the Mondo Disease Ontology (MONDO:0019164), read 2026-09-29. CC BY 4.0.
Features
49 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 cerebral cortex morphologyHPOHP:0002538
- Very frequent (80% to 99% of cases)
- Abnormal cerebral white matter morphologyHPOHP:0002500
- Very frequent (80% to 99% of cases)
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Abnormality of neuronal migrationHPOHP:0002269
- Very frequent (80% to 99% of cases)
- Cerebellar hypoplasiaHPOHP:0001321
- Very frequent (80% to 99% of cases)
- ColpocephalyHPOHP:0030048
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
- Floppy infantHPOHP:0008947
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Gray matter heterotopiaHPOHP:0002282
- Very frequent (80% to 99% of cases)
- High, narrow palateHPOHP:0002705
- Very frequent (80% to 99% of cases)
Show the remaining 37
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- Hypoplasia of the corpus callosumHPOHP:0002079
- Very frequent (80% to 99% of cases)
- HypsarrhythmiaHPOHP:0002521
- Very frequent (80% to 99% of cases)
- Low anterior hairlineHPOHP:0000294
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Very frequent (80% to 99% of cases)