8q24.3 microdeletion syndrome
MONDO:0014263Mondo
Findings
No curated finding names 8q24.3 microdeletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
108 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.
- Broad nasal tipHPOHP:0000455
- 6 of 6 reported patients
- Frequent (30% to 79% of cases)
- Cleft palateHPOHP:0000175
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- 1 of 1 reported patient
- HemivertebraeHPOHP:0002937
- 1 of 1 reported patient
- Long philtrumHPOHP:0000343
- 6 of 6 reported patients
- Frequent (30% to 79% of cases)
- MicrocephalyHPOHP:0000252
- 1 of 1 reported patient
- Prominent foreheadHPOHP:0011220
- 6 of 6 reported patients
- Occasional (5% to 29% of cases)
- RetrognathiaHPOHP:0000278
- 1 of 1 reported patient
- SeizureHPOHP:0001250
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Small for gestational ageHPOHP:0001518
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Anteverted naresHPOHP:0000463
- 5 of 6 reported patients
- Frequent (30% to 79% of cases)
Show the remaining 96
- Joint hypermobilityHPOHP:0001382
- 5 of 6 reported patients
- Frequent (30% to 79% of cases)
- Square faceHPOHP:0000321
- 5 of 6 reported patients
- Frequent (30% to 79% of cases)
- Thin upper lip vermilionHPOHP:0000219
- 5 of 6 reported patients
- Frequent (30% to 79% of cases)
- Moderate intellectual disabilityHPOHP:0002342
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Full cheeksHPOHP:0000293
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.
- PUF60HGNC:17042
- Definitive · G2P · Autosomal dominant · 2016
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
1 name
Resolves to: 8q24.3 microdeletion syndrome
- Also called
- Verheij syndrome