chromosome 8Q12.1-q21.2 deletion syndrome
MONDO:0010852Mondo
Findings
No curated finding names chromosome 8Q12.1-q21.2 deletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance · Contiguous gene syndrome
HPO, annotations 2026-09-02
Features
4 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.
- Abnormality of the earHPOHP:0000598
- Duane anomalyHPOHP:0009921
- HydrocephalusHPOHP:0000238
- Trapezius muscle aplasiaHPOHP:0034342