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mosaic variegated aneuploidy syndrome 2
Summary
- 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.
- Super Class
- autosomal recessive disease mosaic variegated aneuploidy syndrome
External Links
- Disease Ontology
- DOID:0080142
- Mondo Disease Ontology
- OMIM
