chromosome 6q24-q25 deletion syndrome
Findings
No curated finding names chromosome 6q24-q25 deletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.
Definition from the Mondo Disease Ontology (MONDO:0013025), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Typically de novo
- Onset and course
- Fetal 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.
- Agenesis of corpus callosumHPOHP:0001274
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Anteriorly placed anusHPOHP:0001545
- 1 of 1 reported patient
- Cupped earHPOHP:0000378
- 1 of 1 reported patient
- Diminished ability to concentrateHPOHP:0031987
- 1 of 1 reported patient
- DolichocephalyHPOHP:0000268
- 1 of 1 reported patient
- Facial asymmetryHPOHP:0000324
- 1 of 1 reported patient
- Feeding difficulties
Show the remaining 60
- Lateral ventricle dilatationHPOHP:0006956
- 1 of 1 reported patient
- Medial flaring of the eyebrowHPOHP:0010747
- 1 of 1 reported patient
- Mild intellectual disabilityHPOHP:0001256
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Moderate global developmental delayHPOHP:0011343
- 1 of 1 reported patient
- Narrow foreheadHPOHP:0000341
- 2 of 2 reported patients
- NystagmusHPOHP:0000639
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TAB2HGNC:17075
- Definitive · G2P · Autosomal dominant · 2016
Where it sits
Other names
2 names
Resolves to: chromosome 6q24-q25 deletion syndrome
- Also called
- chromosome 6q25-q25 deletion syndromeDel(6)(q25)