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intellectual disability, X-linked, Lubs type

Orpha number ORPHA85281
Synonym(s) Lubs-Arena Syndrome
X-linked intellectual disability - hypotonia - recurrent Infections
Prevalence <1 / 1 000 000
Inheritance
  • X-linked recessive
Age of onset Neonatal/infancy
ICD-10 -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Mental retardation, X-linked, Lubs type is characterised by severe intellectual deficiency and severe progressive central nervous system deterioration, hypotonia, spasticity, mild myopathy, multiple respiratory infections and a characteristic facies (downslanting palpebral fissures, hypertelorism, short nose with low nasal bridge). It has been described in several affected males from more than six families. It is caused by the duplication of the MECP2 gene and the adjacent region on Xq28.


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