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

12 clinical trials for this condition and its sub-types, 0 tagged with Early-onset parkinsonism-intellectual disability syndrome itself.

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↑ Parkinsonian disorder (1315) ↑ X-linked syndromic intellectual disability (12)

Including sub-types (12) Tagged with Early-onset parkinsonism-intellectual disability syndrome (0)

Trials to join now! 1 Not yet recruiting 2 Not yet finished but already full! 4 Completed 5

Early-onset parkinsonism-intellectual disability syndrome

Where it sits in the disease tree

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