Hao-Fountain syndrome due to 16p13.2 microdeletion
Findings
No curated finding names Hao-Fountain syndrome due to 16p13.2 microdeletion yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors.
Definition from the Mondo Disease Ontology (MONDO:0100528), read 2026-09-29. CC BY 4.0.
Features
53 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.
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Brain imaging abnormalityHPOHP:0410263
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Aggressive behaviorHPOHP:0000718
- Frequent (30% to 79% of cases)
- AsthmaHPOHP:0002099
- Frequent (30% to 79% of cases)
Show the remaining 41
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- Gastroesophageal refluxHPOHP:0002020
- Frequent (30% to 79% of cases)
- HypogonadismHPOHP:0000135
- Frequent (30% to 79% of cases)
- Hypoplasia of the corpus callosumHPOHP:0002079
- Frequent (30% to 79% of cases)
Where it sits
Other names
4 names
Resolves to: Hao-Fountain syndrome due to 16p13.2 microdeletion
- Also called
- 16p13.2 microdeletion syndromechromosome 16P13.2 deletion syndromeDel(16)(p13.2)monosomy 16p13.2