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X-linked intellectual disability-hypotonia-movement disorder syndrome
Disease definition
A rare, genetic, syndromic intellectual disability characterized by mild to severe intellectual disability associated with variable features, including hypotonia, dyskinesia, spasticity, wide-based gait, microcephaly, epilepsy and behavioral problems. MRI imaging may show a corpus callosum hypoplasia or ventricular enlargement. Other variable features, such as joint hyperlaxity, skin pigmentary abnormalities, and visual impairment, have also been reported.
ORPHA:457260
Classification level: DisorderA summary on this disease is available in Deutsch (2019) Español (2019) Français (2019) Italiano (2019) Nederlands (2019)
Detailed information
General public
- Article for general public
- Nederlands (2016, pdf) - Unique
- Français (2017, pdf) - Unique
- English (2020, pdf) - Unique
- Português (2020, pdf) - Unique
Disease review articles
- Clinical genetics review
- English (2020) - 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.