cyclin Q
OMIM: 300708, Gene2Phenotype
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FAM58A in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
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review | Other |
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Phenotypes
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FAM58A in Mendeliome
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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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FAM58A in Skeletal dysplasia
Level 3: Skeletal dysplasias
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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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FAM58A in Additional findings_Paediatric
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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FAM58A in Hand and foot malformations
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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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FAM58A 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) |
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Phenotypes
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FAM58A in BabyScreen+ newborn screening
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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