Early-onset parkinsonism-intellectual disability syndrome

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]

Early-onset parkinsonism-intellectual disability syndrome
Parkinsonian gait
Specialty	Medical genetics
Prognosis	Medium
Frequency	very rare, more than 12 cases have been described in medical literature
Deaths	-

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]