Early-onset parkinsonism-intellectual disability syndrome
Medical condition
From Wikipedia, the free encyclopedia
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]
PrognosisMedium
Frequencyvery rare, more than 12 cases have been described in medical literature
Deaths-
| 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]