progesterone receptor membrane component 1
OMIM: 300435, Gene2Phenotype
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PGRMC1 in Primary ovarian insufficiency
Level 3: Gonadal and sex development disorders
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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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PGRMC1 in Bilateral congenital or childhood onset cataracts
Level 3: Anterior segment abnormalities
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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PGRMC1 in Intellectual disability - microarray and sequencing
Level 3: Neurodevelopmental disorders
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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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