/early-onset parkinsonism-intellectual disability syndrome

early-onset parkinsonism-intellectual disability syndrome

Rare Disease

MONDO:0010709

Also Known As

Laxova-Opitz syndromeWaisman syndromeWaisman syndrome, X-linked recessiveearly-onset parkinsonism-intellectual disability syndromeBGMRLaxova Brown hogan syndromeParkinsonism, early onset with intellectual disabilityParkinsonism, early onset with mental retardationParkinsonism, early-onset, with intellectual disabilityParkinsonism, early-onset, with mental retardationWAISMAN syndromeWSMNWsnX-linked recessive basal ganglia disorder with intellectual disabilityX-linked recessive basal ganglia disorder with mental retardationbasal ganglia disorder with intellectual disabilitybasal ganglia disorder with mental retardationbasal ganglion disorder with intellectual disabilitybasal ganglion disorder with mental retardation

Definition

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.