Kleefstra Syndrome 1 (KLEFS1)

Alias:

9q Subtelomeric Deletion Syndrome

Kleefstra Syndrome Due to 9q34 Microdeletion

Chromosome 9q34.3 Deletion Syndrome

9q34 Deletion Syndrome

Kleefstra Syndrome

9q- Syndrome

Klefs1

Kleefstra Syndrome Due to 9q Subtelomeric Deletion

Chromosome 9q Subtelomeric Deletion Syndrome

Kleefstra Syndrome Due to Monosomy 9q34

Kleefstra Syndrome Due to Del(9)(q34)

Kleefstra Syndrome, Type 1

9q-Syndrome

9qstds

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Kleefstra Syndrome 1, also known as 9q subtelomeric deletion syndrome, is related to kleefstra syndrome due to a point mutation and kleefstra syndrome 2, and has symptoms including seizures An important gene associated with Kleefstra Syndrome 1 is EHMT1 (Euchromatic Histone Lysine Methyltransferase 1), and among its related pathways/superpathways are Chromatin organization and Cellular Senescence. Affiliated tissues include heart and testis, and related phenotypes are intellectual disability and aphasia

Related ID：

MALACARDS：KLF004

OMIM：610253

MESH：C563043