chromosome 17p13.1 deletion syndrome
MONDO:0013415Mondo
Findings
No curated finding names chromosome 17p13.1 deletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance · Contiguous gene syndrome
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
48 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.
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- HypotoniaHPOHP:0001252
- 3 of 4 reported patients
- EpicanthusHPOHP:0000286
- 2 of 4 reported patients
- Intellectual disabilityHPOHP:0001249
- 2 of 4 reported patients
- TelecanthusHPOHP:0000506
- 2 of 4 reported patients
- Absent speechHPOHP:0001344
- 1 of 4 reported patients
- Anteverted naresHPOHP:0000463
- 1 of 4 reported patients
- ArachnodactylyHPOHP:0001166
- 1 of 4 reported patients
- BrachycephalyHPOHP:0000248
- 1 of 4 reported patients
- Broad neckHPOHP:0000475
- 1 of 4 reported patients
- Bulbous noseHPOHP:0000414
- 1 of 4 reported patients
- Decreased fetal movementHPOHP:0001558
- 1 of 4 reported patients
Show the remaining 36
- Delayed CNS myelinationHPOHP:0002188
- 1 of 4 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 1 of 4 reported patients
- Diffuse cerebral atrophyHPOHP:0002506
- 1 of 4 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 1 of 4 reported patients
- Everted lower lip vermilionHPOHP:0000232
- 1 of 4 reported patients
- ExodeviationHPOHP:0020049
- 1 of 4 reported patients
Where it sits
- A kind of
- Narrower terms (1)