hypoxanthine phosphoribosyltransferase 1
OMIM: 308000, Gene2Phenotype
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HPRT1 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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HPRT1 in Nephrocalcinosis or nephrolithiasis
Level 3: Disorders of function
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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HPRT1 in Unexplained young onset end-stage renal disease
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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HPRT1 in Adult onset neurodegenerative 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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HPRT1 in Undiagnosed metabolic disorders
Level 3: Specific metabolic abnormalities
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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HPRT1 in Likely inborn error of metabolism - targeted testing not possible
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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HPRT1 in Fetal anomalies
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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HPRT1 in DDG2P
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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HPRT1 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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Phenotypes
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HPRT1 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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HPRT1 in Adult onset dystonia, chorea or related movement disorder
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review | Not set |
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HPRT1 in Childhood 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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Phenotypes
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HPRT1 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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