ATPase H+ transporting accessory protein 2
OMIM: 300556, Gene2Phenotype
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ATP6AP2 in Parkinson Disease and Complex Parkinsonism
Level 3: Neurodegenerative disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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ATP6AP2 in Adult onset neurodegenerative disorder
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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ATP6AP2 in DDG2P
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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ATP6AP2 in Early onset or syndromic epilepsy
Level 3: Inherited Epilepsy Syndromes
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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ATP6AP2 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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ATP6AP2 in Adult onset dystonia, chorea or related movement disorder
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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ATP6AP2 in Severe Paediatric 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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