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A condition caused by mutation or deletion of the EHMT1 gene, encoding histone-lysine N-methyltransferase EHMT1. It is characterized by severe intellectual disability, hypotonia, cardiac defects, and characteristic facial features. [ NCI ]

Synonyms: Chromosome 9q34.3 Deletion Syndrome Kleefstra Syndrome

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Term information

Subsets

NCIT_C165258

Contributing Source

Cellosaurus

Preferred Name

Kleefstra Syndrome

Semantic Type

Disease or Syndrome

UMLS CUI

C0795833

code

C129976