collagen type IV alpha 6 chain
OMIM: 303631, Gene2Phenotype
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COL4A6 in Mendeliome
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3 reviews | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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COL4A6 in Deafness_IsolatedAndComplex
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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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Phenotypes
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COL4A6 in Genomic newborn screening: BabyScreen+
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2 reviews | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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