kelch like family member 13
OMIM: 300655,
ClinGen,
DECIPHER
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KLHL13 in Macrocephaly_Megalencephaly
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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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KLHL13 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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KLHL13 in Intellectual disability syndromic and non-syndromic
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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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KLHL13 in Hereditary Neuropathy_CMT - isolated
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2 reviews | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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