cyclin Q
OMIM: 300708,
ClinGen,
DECIPHER
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CCNQ in Congenital anomalies of the kidney and urinary tract (CAKUT)
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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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CCNQ in Mendeliome
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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) |
Sources
Phenotypes
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CCNQ in Skeletal dysplasia
Level 3: Skeletal dysplasias
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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) |
Sources
Phenotypes
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CCNQ in Hand and foot malformations
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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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CCNQ in Fetal anomalies
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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) |
Sources
Phenotypes
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CCNQ in Genomic newborn screening: BabyScreen+
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1 review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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