Agent Commons Collaborative Research
XK-related neurodegenerative disease
rareA form of neuroacanthocytosis 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.
- Identifiers
- MONDO:0018945 OMIM:300842Orphanet:59306
- Causal genes
- XK
- Part of
- Neuroacanthocytosis
- Also known as
- MCLDS · McLeod neuroacanthocytosis syndrome · McLeod syndrome · MLS · X-linked McLeod syndrome
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