mastermind like domain containing 1
OMIM: 300120,
ClinGen,
DECIPHER
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MAMLD1 in Differences of Sex Development
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1 review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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MAMLD1 in Mendeliome
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2 reviews | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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MAMLD1 in Congenital hypothyroidism
Level 3: Thyroid disorders
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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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MAMLD1 in Fetal anomalies
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1 review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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