X-linked Kx blood group
OMIM: 314850, Gene2Phenotype
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XK in Early onset dementia (encompassing fronto-temporal dementia and prion disease)
Level 3: Neurodegenerative disorders
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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Phenotypes
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XK in Early onset dystonia
Level 3: Motor Disorders of the CNS
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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XK in Dilated Cardiomyopathy and conduction defects
Level 3: Cardiomyopathy
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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XK in Cytopenias and congenital anaemias
Level 3: Anaemias and red cell disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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XK in Rare anaemia
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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XK in Adult onset neurodegenerative disorder
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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Phenotypes
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XK in Hereditary neuropathy
Level 3: Motor and Sensory Disorders of the PNS
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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XK in Early onset or syndromic epilepsy
Level 3: Inherited Epilepsy Syndromes
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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XK in Intellectual disability - microarray and sequencing
Level 3: Neurodevelopmental disorders
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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Phenotypes
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XK in Hereditary neuropathy or pain disorder
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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XK in Childhood onset dystonia, chorea or related movement disorder
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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