X-linked intellectual disability-hypotonia-movement disorder syndrome

Orpha code: 457260OMIM code: 300958

Definicja

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.

Disease data
Klasyfikacja

Disease

Kod ORPHA
457260
Kod OMIM
300958
Kod ICD10
F78.8
Kod ICD11
-

No additional description.

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