chromosome 6pter-p24 deletion syndrome
MONDO:0012948Mondo
Findings
No curated finding names chromosome 6pter-p24 deletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.
Definition from the Mondo Disease Ontology (MONDO:0012948), read 2026-09-29. CC BY 4.0.
- Inheritance
- Sporadic
- Onset and course
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
72 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.
- Global developmental delayHPOHP:0001263
- 5 of 6 reported patients
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- 5 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal anterior chamber morphologyHPOHP:0000593
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
- Low-set earsHPOHP:0000369
- 3 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Mild intellectual disabilityHPOHP:0001256
Show the remaining 60
- Clinodactyly of the 5th fingerHPOHP:0004209
- 1 of 6 reported patients
- Frequent (30% to 79% of cases)
- Corneal opacityHPOHP:0007957
- Frequent (30% to 79% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Frequent (30% to 79% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- 1 of 6 reported patients
- Frequent (30% to 79% of cases)
- Downturned corners of mouthHPOHP:0002714
- Frequent (30% to 79% of cases)
- EpicanthusHPOHP:0000286
Where it sits
Other names
6 names
Resolves to: chromosome 6pter-p24 deletion syndrome
- Also called
- 6p subtelomeric deletion syndrome6p25 microdeletion syndromechromosome 6pter-p24 deletion syndrome, isolated casesdistal deletion 6pdistal monosomy type 6pmonosomy 6p25