distal 17p13.1 microdeletion syndrome
Findings
No curated finding names distal 17p13.1 microdeletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.
Definition from the Mondo Disease Ontology (MONDO:0017867), read 2026-09-29. CC BY 4.0.
Features
23 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
- Frequent (30% to 79% of cases)
- Floppy infantHPOHP:0008947
- Frequent (30% to 79% of cases)
- Increased overbiteHPOHP:0011094
- Frequent (30% to 79% of cases)
- MicrocephalyHPOHP:0000252
- Frequent (30% to 79% of cases)
- Moderate global developmental delayHPOHP:0011343
- Frequent (30% to 79% of cases)
- Motor delayHPOHP:0001270
- Frequent (30% to 79% of cases)
- Postural instabilityHPO
Show the remaining 11
- Deeply set eyeHPOHP:0000490
- Occasional (5% to 29% of cases)
- EEG with spike-wave complexesHPOHP:0010850
- Occasional (5% to 29% of cases)
- Flat occiputHPOHP:0005469
- Occasional (5% to 29% of cases)
- Generalized joint hypermobilityHPOHP:0002761
- Occasional (5% to 29% of cases)
- High palateHPOHP:0000218
- Occasional (5% to 29% of cases)
- Hypoplasia of the zygomatic boneHPOHP:0010669
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: distal 17p13.1 microdeletion syndrome
- Also called
- distal del(17)(p13.1)