distal 10q deletion syndrome
MONDO:0012315Mondo
Findings
No curated finding names distal 10q deletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay.
Definition from the Mondo Disease Ontology (MONDO:0012315), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
97 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.
- CryptorchidismHPOHP:0000028
- 2 of 2 reported patients · Male
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- 8 of 15 reported patients
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- 7 of 15 reported patients
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Specific learning disabilityHPOHP:0001328
- Very frequent (80% to 99% of cases)
Show the remaining 85
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- Floppy infantHPOHP:0008947
- Frequent (30% to 79% of cases)
- Lower limb hyperreflexiaHPOHP:0002395
- Frequent (30% to 79% of cases)
- Motor delayHPOHP:0001270
- 9 of 15 reported patients
- Poor speechHPOHP:0002465
- Frequent (30% to 79% of cases)
- Postnatal growth retardationHPOHP:0008897
- Frequent (30% to 79% of cases)
Where it sits
Other names
7 names
Resolves to: distal 10q deletion syndrome
- Also called
- chromosome 10q26 deletion syndromedistal deletion 10qdistal monosomy 10qdistal monosomy type 10qmonosomy 10qtertelomeric deletion 10qterminal chromosome 10q26 deletion syndrome