arginine vasopressin receptor 2
OMIM: 300538, Gene2Phenotype
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AVPR2 in Mendeliome
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2 reviews | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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AVPR2 in Intellectual disability syndromic and non-syndromic
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1 review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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AVPR2 in Additional findings_Paediatric
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0 reviews | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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AVPR2 in Diabetes Insipidus
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2 reviews | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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AVPR2 in Genomic newborn screening: BabyScreen+
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1 review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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AVPR2 in Renal Tubulopathies and related disorders
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2 reviews | 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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