Early-onset parkinsonism-intellectual disability syndrome

MONDO:0010709

A basal ganglia disorder characterized by Parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.

Also known as: Laxova-Opitz syndrome, Waisman syndrome, Waisman syndrome, X-linked recessive, early-onset parkinsonism-intellectual disability syndrome, BGMR, Laxova Brown hogan syndrome, Parkinsonism, early onset with intellectual disability, Parkinsonism, early onset with mental retardation

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