ATPase plasma membrane Ca2+ transporting 3
OMIM: 300014, Gene2Phenotype
Panel | Reviews | Mode of inheritance | Details | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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ATP2B3 in Ataxia and cerebellar anomalies - narrow panel
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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ATP2B3 in Hereditary ataxia
Level 3: Motor Disorders of the CNS
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review | Not set |
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Phenotypes
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ATP2B3 in Adult onset neurodegenerative disorder
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review | Unknown |
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Phenotypes
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ATP2B3 in Intellectual disability - microarray and sequencing
Level 3: Neurodevelopmental 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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ATP2B3 in Hereditary ataxia with onset in adulthood
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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