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3p25.3 microdeletion syndrome
Disease definition
3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.
ORPHA:435638
Classification level: Disorder- Synonym(s):
- Del(3)p(25.3)
- Intellectual disability-epilepsy-stereotypic hand movement syndrome
- Monosomy 3p25.3
- Prevalence: <1 / 1 000 000
- Inheritance: Not applicable
- Age of onset: Neonatal, Infancy
- ICD-10: Q93.5
- ICD-11: LD44.31
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Español (2018) Italiano (2018) Nederlands (2018) Polski ()
Detailed information
General public
- Article for general public
- Français (2005, pdf) - Unique
- Deutsch (2012, pdf) - Unique
- Español (2013) - Unique
- English (2018, pdf) - Unique
- Russian (2018, pdf) - Unique


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.