17q24.2 microdeletion syndrome
Findings
No curated finding names 17q24.2 microdeletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, genetic, multiple congenital anomalies/dysmorphic features-intellectual disability syndrome characterized by developmental and speech delay, intellectual disability, feeding difficulties, failure to thrive, growth retardation, and associated malformations such as abnormality of fingers and toes (i.e. clinodactyly of the 5th finger, 2-3 toe syndactyly), microcephaly, heart defects, and upper airways anomalies. Observed facial dysmorphism includes hypertelorism, small, narrow or downslanting palpebral fissures, ptosis, epicanthus, ear malformations, broad nasal bridge, bulbous/prominent nose, short philtrum, thin lips, retrognathia/micrognathia, arched/cleft palate, and dental anomalies. Additional variable manifestations include hearing and visual impairment, seizures, joint anomalies, obesity, and behavioral/psychiatric disorders.
Definition from the Mondo Disease Ontology (MONDO:0035151), read 2026-09-29. CC BY 4.0.
Features
46 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.
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Very frequent (80% to 99% of cases)
- Truncal obesityHPOHP:0001956
- Very frequent (80% to 99% of cases)
- Abnormality of the ankleHPOHP:0003028
- Frequent (30% to 79% of cases)
- Abnormality of the wristHPOHP:0003019
- Frequent (30% to 79% of cases)
- Anxiety
Where it sits
Other names
1 name
Resolves to: 17q24.2 microdeletion syndrome
- Also called
- Del(17)(q24)