Kleefstra Syndrome

Submicroscopic and subtelomeric deletions of the q region of chromosome 9 that result in severe intellectual disability, epilepsy, heart defects, BRACHYCEPHALY or MICROCEPHALY; MACROGLOSSIA and other craniofacial abnormalities. The symptoms are caused by deletion or mutation of the EHMT1 gene. OMIM: 610253

Also Known As:

9q Subtelomeric Deletion Syndrome; 9q- Syndrome; 9q34.3 Deletion Syndrome; 9q34.3 Microdeletion Syndrome; Chromosome 9q34.3 Deletion Syndrome

Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10385
  - Chromosome Aberrations: 11465
    - Aneuploidy: 9055
      - Monosomy: 442
        Chromosome Deletion: 104
        Kleefstra Syndrome: 43
- Signs and Symptoms
  - Neurologic Manifestations: 7223
    - Neurobehavioral Manifestations: 1632
      - Intellectual Disability: 8222
        Kleefstra Syndrome: 43
Genetic Phenomena
- Genetic Structures
  - Chromosomes
    - Mammalian Chromosomes
      - Human Chromosomes
        6-12 and X Human Chromosomes
        Pair 9 Human Chromosomes
        Kleefstra Syndrome: 43
- Genetic Variation
  - Mutation
    - Chromosome Aberrations: 11465
      - Aneuploidy: 9055
        Monosomy: 442
        Chromosome Deletion: 104
        Kleefstra Syndrome: 43
    - Allelic Imbalance
      - Loss of Heterozygosity
        Chromosome Deletion: 104
        Kleefstra Syndrome: 43
    - Sequence Deletion
      - Chromosome Deletion: 104
        Kleefstra Syndrome: 43
- Mutagenesis
  - Sequence Deletion
    - Chromosome Deletion: 104
      - Kleefstra Syndrome: 43
- Ploidies
  - Aneuploidy: 9055
    - Monosomy: 442
      - Chromosome Deletion: 104
        Kleefstra Syndrome: 43
Cells
- Cellular Structures
  - Chromosomes
    - Mammalian Chromosomes
      - Human Chromosomes
        6-12 and X Human Chromosomes
        Pair 9 Human Chromosomes
        Kleefstra Syndrome: 43
Cardiovascular Diseases: 94258
- Heart Diseases: 26486
  - Congenital Heart Defects: 9139
    - Kleefstra Syndrome: 43
- Cardiovascular Abnormalities: 457
  - Congenital Heart Defects: 9139
    - Kleefstra Syndrome: 43
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Cardiovascular Abnormalities: 457
    - Congenital Heart Defects: 9139
      - Kleefstra Syndrome: 43
  - Musculoskeletal Abnormalities: 46
    - Craniofacial Abnormalities: 208
      - Kleefstra Syndrome: 43
Nervous System Diseases: 14737
- Neurologic Manifestations: 7223
  - Neurobehavioral Manifestations: 1632
    - Intellectual Disability: 8222
      - Kleefstra Syndrome: 43
Behavior and Behavior Mechanisms
- Neurobehavioral Manifestations: 1632
  - Intellectual Disability: 8222
    - Kleefstra Syndrome: 43
Mental Disorders: 25040
- Neurodevelopmental Disorders: 3318
  - Intellectual Disability: 8222
    - Kleefstra Syndrome: 43
Musculoskeletal Diseases: 751
- Musculoskeletal Abnormalities: 46
  - Craniofacial Abnormalities: 208
    - Kleefstra Syndrome: 43

Eliza M Maliepaard Selected Research

Eliza M Maliepaard Research Topics

Disease

Drug/Important Bio-Agent (IBA)