eukaryotic translation initiation factor 5A
OMIM: 600187, Gene2Phenotype
Panel | Reviews | Mode of inheritance | Details | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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EIF5A in Severe microcephaly
Level 3: DNA repair disorders
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review | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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Phenotypes
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EIF5A in Fetal anomalies
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review | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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Phenotypes
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EIF5A in Rare syndromic craniosynostosis or isolated multisuture synostosis
Level 3: Craniosynostosis syndromes
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review | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
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EIF5A in DDG2P
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review | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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Phenotypes
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EIF5A in Intellectual disability - microarray and sequencing
Level 3: Neurodevelopmental disorders
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review | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
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