Xp22.3 microdeletion syndrome
Findings
No curated finding names Xp22.3 microdeletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated.
Definition from the Mondo Disease Ontology (MONDO:0015606), read 2026-09-29. CC BY 4.0.
Features
12 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.
- Abnormality of chromosome segregationHPOHP:0002916
- Very frequent (80% to 99% of cases)
- Secondary amenorrheaHPOHP:0000869
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia affecting the eyeHPOHP:0008056
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the skinHPOHP:0008065
- Frequent (30% to 79% of cases)
- Decreased fertilityHPOHP:0000144
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: Xp22.3 microdeletion syndrome
- Also called
- Del(X)(p23)