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| Term | mosaic variegated aneuploidy syndrome 2 | ID (Ontology) | DOID:0080142 (Human Disease) |
| Definition | A mosaic variegated aneuploidy syndrome that is characterized by slowly before and after birth and typically normal head size and that has_material_basis_in homozygous or compound heterozygous mutation in the CEP57 gene on chromosome 11q21. | ||
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autosomal genetic disease |__autosomal recessive disease____________ syndrome | |__mosaic variegated aneuploidy syndrome__| mosaic variegated aneuploidy syndrome 2 |
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| Is a |
autosomal recessive disease mosaic variegated aneuploidy syndrome |
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External Crossreferences & Linkouts
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| MIM:614114 | |||