CHM, Rab escort protein 1
OMIM: 300390, Gene2Phenotype
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CHM in Mendeliome
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1 review | 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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CHM in Retinitis pigmentosa_Autosomal Recessive/X-linked
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0 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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CHM in Congenital Stationary Night Blindness
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0 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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CHM in Mackenzie's Mission_Reproductive Carrier Screening
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0 reviews | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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CHM in Additional findings_Paediatric
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0 reviews | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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CHM in Prepair 1000+
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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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CHM 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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Phenotypes
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