Kleefstra Syndrome

Alias:

9q Subtelomeric Deletion Syndrome

9q34.3 Microdeletion Syndrome

9q34.3 Deletion Syndrome

Chromosome 9q Deletion Syndrome

Chromosome 9, Trisomy 9q

9q- Syndrome

9qstds

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Kleefstra Syndrome, also known as 9q subtelomeric deletion syndrome, is related to kleefstra syndrome 2 and kleefstra syndrome 1, and has symptoms including seizures An important gene associated with Kleefstra Syndrome is EHMT1 (Euchromatic Histone Lysine Methyltransferase 1), and among its related pathways/superpathways are Gene expression (Transcription) and RNA Polymerase I Promoter Opening. Affiliated tissues include tongue and heart, and related phenotypes are hypotonia and coarse facial features

Related ID：

MALACARDS：KLF001