praja ring finger ubiquitin ligase 1
OMIM: 300420, Gene2Phenotype
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PJA1 in Rare syndromic craniosynostosis or isolated multisuture synostosis
Level 3: Craniosynostosis syndromes
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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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PJA1 in Intellectual disability
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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Phenotypes
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