Term Name: mosaic variegated aneuploidy syndrome 3
Synonyms:
Definition: A mosaic variegated aneuploidy syndrome that has_material_basis_in homozygous mutation in the TRIP13 gene on chromosome 5p15 that results in no detectable TRIP13 protein.
Ontology: Human Disease [DOID:0080689]   ( DOID:0080689 )

Relationships
is a type of: autosomal recessive disease mosaic variegated aneuploidy syndrome