O-linked N-acetylglucosamine (GlcNAc) transferase
OMIM: 300255, Gene2Phenotype
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OGT in Rare syndromic craniosynostosis or isolated multisuture synostosis
Level 3: Craniosynostosis syndromes
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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OGT in DDG2P
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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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OGT 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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Phenotypes
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OGT in Severe Paediatric Disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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