X-linked intellectual disability-hypotonia-movement disorder syndrome

Go to external page http://www.orpha.net/ORDO/Orphanet_457260


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.

This is just here as a test because I lose it

Term information

database cross reference
hasDbXref

OMIM:300958

ICD-10:F78.8

notation

ORPHA:457260