Term Name: | mosaic variegated aneuploidy syndrome 4 |
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Synonyms: | MVA4 |
Definition: | A mosaic variegated aneuploidy syndrome that is characterized by mosaic aneuploidy, patients have microcephaly, mild developmental delay, and mild maculopathy and that has_material_basis_in compound heterozygous mutation in the CENATAC gene on chromosome 11q23. |
Ontology: | Human Disease [DOID:0060981] ( DOID:0060981 ) |