Trisomy Xq28
Engelsk navn: Proximal Xq28 duplication syndrome
Engelske synonym: MECP2 duplication syndrome,X-linked intellectual disability syndrome, Lubs type
Definisjon
A rare X-linked genomic disorder associated with interstitial chromosomal duplications at Xq28 encompassing the <i>MECP2</i> gene. It is characterized in males by infantile onset hypotonia, severe global developmental delay, intellectual disability, progressive spasticity, seizures, gastrointestinal symptoms and recurrent respiratory infections. In females, the phenotype is more variable.
Fra Orphanet
ORPHA: 1762
Klassifiseringsnivå: Disorder
ICD-10: Q99.8
Mer informasjon
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