RPS6KA3
ribosomal protein S6 kinase A3
OMIM: 300075, Gene2Phenotype
9 panels
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RPS6KA3 in IUGR and IGF abnormalities
Level 3: Growth hormone disorders
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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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RPS6KA3 in Hydrocephalus
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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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RPS6KA3 in Adult onset leukodystrophy
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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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RPS6KA3 in Fetal anomalies
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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RPS6KA3 in Osteogenesis imperfecta
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review | Not set |
Sources
Phenotypes
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RPS6KA3 in DDG2P
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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RPS6KA3 in Monogenic hearing loss
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review | Not set |
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Phenotypes
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RPS6KA3 in Intellectual disability
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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RPS6KA3 in Monogenic short stature
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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