May 15, 2017 · Kleefstra syndrome (Ks) is a rare genetic disorder characterised by intellectual disability, often accompanied by a spectrum of complex physical and clinical features. The …

Oct 5, 2010 · Diagnosis/testing. The diagnosis of Kleefstra syndrome is established in a proband who has a heterozygous deletion at chromosome 9q34.3 that includes at least part of EHMT1 …

Kleefstra syndrome is a rare genetic condition that affects development and involves many body systems. People with Kleefstra syndrome usually have distinct facial features, developmental …

Jun 5, 2025 · Learn about Kleefstra Syndrome, including symptoms, causes, and treatments. If you or a loved one is affected by this condition, visit NORD to find resources

9q34 deletion syndrome, now known as Kleefstra syndrome, is a rare genetic disorder. Terminal deletions of chromosome 9q 34 have been associated with childhood hypotonia, distinctive …

Kleefstra syndrome is a disorder that involves many parts of the body. Characteristic features of Kleefstra syndrome include developmental delay and intellectual disability, severely limited or …

Mar 31, 2025 · Kleefstra syndrome is a rare, genetic mutation disorder that causes mental retardation, abnormal facial features and muscle hypotonia.

Kleefstra syndrome* (KS) is a rare genetic condition in humans caused by a deletion or mutation of the gene known as EHMT1. The deletion or mutation of the gene occurs in one of the two …

A rare genetic, intellectual disability syndrome characterized by intellectual disability, childhood hypotonia, severe expressive speech delay, autism spectrum disorder, and a distinctive facial …

A rare genetic, intellectual disability syndrome characterized by intellectual disability, childhood hypotonia, severe expressive speech delay, autism spectrum disorder, and a distinctive facial …