6q27 Deletion Syndrome

Preferred Label : 6q27 Deletion Syndrome;

NCIt definition : A genetic condition caused by a terminal 6q27 deletion. It is characterized by an array of developmental abnormalities including facial dysmorphisms, developmental delay, as well as structural abnormalities of the brain, heart, and vertebrae.;

Details

Origin ID

C212893;

concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 6 [NCIt concept]

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