Английская Википедия:Early-onset parkinsonism-intellectual disability syndrome

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Шаблон:Infobox medical condition

Early-onset parkinsonism-intellectual disability syndrome is a very rare genetic disorder which is characterized by intellectual disabilities, psychomotor developmental delays, macrocephaly, and Parkinson's disease which starts before the age of 45 (early onset PD).[1][2][3] Additional symptoms include epilepsy, strabismus, and frontal bossing.[4]

Causes

This disorder is either caused by alterations or deletions of the RAB39B gene in chromosome Xq28 which are inherited in an X-linked recessive manner.[5]

Epidemiology

More than 12 cases from 3 families from Australia and the U.S. have been described in medical literature.[6][7][8][9]

References

Шаблон:Reflist