IGSF1
immunoglobulin superfamily member 1
OMIM: 300137, Gene2Phenotype
5 panels
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IGSF1 in Pituitary hormone deficiency
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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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IGSF1 in Fetal anomalies
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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IGSF1 in DDG2P
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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IGSF1 in Intellectual disability
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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IGSF1 in Congenital hypothyroidism
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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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