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Синдром нейроакантоцитозу Маклеода

ORPHA:59306· ICD-10 G10· McLeod neuroacanthocytosis syndrome

Визначення(English summary)

McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.

Поширеність
<1 / 1 000 000
Успадкування
X-linked recessive
Вік початку
Adult