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Distal Xq28 microduplication syndrome
Disease definition
A rare syndromic X-linked intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, obesity, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism.
ORPHA:293939
Classification level: Disorder- Synonym(s):
- Distal dup(X)q(28)
- Distal trisomy Xq28
- Int22h1/Int22h2 mediated-Xq28 microduplication syndrome
- Prevalence: <1 / 1 000 000
- Inheritance: X-linked recessive
- Age of onset: Infancy, Neonatal
- ICD-10: Q99.8
- OMIM: 300815
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Italiano (2018) Español (2020) Français (2020) Nederlands (2020) Polski ()
Detailed information
Disease review articles
- Clinical genetics review
- English (2021) - GeneReviews


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.