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familial adenomatous polyposis due to 5q22.2 microdeletion

MONDO:0016860Mondo

Findings

No curated finding names familial adenomatous polyposis due to 5q22.2 microdeletion yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Features

35 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.

Adenomatous colonic polyposisHPOHP:0005227
- Very frequent (80% to 99% of cases)
Abnormal canine tooth morphologyHPOHP:0011078
- Frequent (30% to 79% of cases)
Broad nasal tipHPOHP:0000455
- Frequent (30% to 79% of cases)
Congenital hypertrophy of retinal pigment epitheliumHPOHP:0007649
- Frequent (30% to 79% of cases)
Downslanted palpebral fissuresHPOHP:0000494
- Frequent (30% to 79% of cases)
Duodenal polyposisHPOHP:0004783
- Frequent (30% to 79% of cases)
DyslexiaHPOHP:0010522
- Frequent (30% to 79% of cases)
Early baldingHPOHP:0002234
- Frequent (30% to 79% of cases)
Epidermoid cystHPOHP:0200040
- Frequent (30% to 79% of cases)
High foreheadHPOHP:0000348
- Frequent (30% to 79% of cases)
High palateHPOHP:0000218
- Frequent (30% to 79% of cases)
HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)

Show the remaining 23

Intestinal bleedingHPOHP:0002584
- Frequent (30% to 79% of cases)
Iron deficiency anemiaHPOHP:0001891
- Frequent (30% to 79% of cases)
Long faceHPOHP:0000276
- Frequent (30% to 79% of cases)
Long philtrumHPOHP:0000343
- Frequent (30% to 79% of cases)
Mandibular prognathiaHPOHP:0000303
- Frequent (30% to 79% of cases)
Mild intellectual disabilityHPOHP:0001256
- Frequent (30% to 79% of cases)

Where it sits

A kind of: classic familial adenomatous polyposis
partial deletion of the long arm of chromosome 5

Other names

5 names

Resolves to: familial adenomatous polyposis due to 5q22.2 microdeletion

Also called: colorectal adenomatous polyposis due to monosomy 5q22.2familial adenomatous polyposis due to del(5)(q22.2)familial adenomatous polyposis due to monosomy 5q22.2familial polyposis coli due to monosomy 5q22.2FAP due to monosomy 5q22.2