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: 10023
  - Chromosome Aberrations: 11361
    - Aneuploidy: 8932
      - Monosomy: 435
        Chromosome Deletion: 104
        Kleefstra Syndrome: 40
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Neurobehavioral Manifestations: 1586
      - Intellectual Disability: 8035
        Kleefstra Syndrome: 40
Genetic Phenomena
- Genetic Structures
  - Chromosomes
    - Mammalian Chromosomes
      - Human Chromosomes
        6-12 and X Human Chromosomes
        Pair 9 Human Chromosomes
        Kleefstra Syndrome: 40
- Genetic Variation
  - Mutation
    - Chromosome Aberrations: 11361
      - Aneuploidy: 8932
        Monosomy: 435
        Chromosome Deletion: 104
        Kleefstra Syndrome: 40
    - Allelic Imbalance
      - Loss of Heterozygosity
        Chromosome Deletion: 104
        Kleefstra Syndrome: 40
    - Sequence Deletion
      - Chromosome Deletion: 104
        Kleefstra Syndrome: 40
- Mutagenesis
  - Sequence Deletion
    - Chromosome Deletion: 104
      - Kleefstra Syndrome: 40
- Ploidies
  - Aneuploidy: 8932
    - Monosomy: 435
      - Chromosome Deletion: 104
        Kleefstra Syndrome: 40
Cells
- Cellular Structures
  - Chromosomes
    - Mammalian Chromosomes
      - Human Chromosomes
        6-12 and X Human Chromosomes
        Pair 9 Human Chromosomes
        Kleefstra Syndrome: 40
Cardiovascular Diseases: 91362
- Heart Diseases: 26014
  - Congenital Heart Defects: 8917
    - Kleefstra Syndrome: 40
- Cardiovascular Abnormalities: 452
  - Congenital Heart Defects: 8917
    - Kleefstra Syndrome: 40
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Cardiovascular Abnormalities: 452
    - Congenital Heart Defects: 8917
      - Kleefstra Syndrome: 40
  - Musculoskeletal Abnormalities: 43
    - Craniofacial Abnormalities: 203
      - Kleefstra Syndrome: 40
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - Kleefstra Syndrome: 40
Behavior and Behavior Mechanisms
- Neurobehavioral Manifestations: 1586
  - Intellectual Disability: 8035
    - Kleefstra Syndrome: 40
Mental Disorders: 24177
- Neurodevelopmental Disorders: 3095
  - Intellectual Disability: 8035
    - Kleefstra Syndrome: 40
Musculoskeletal Diseases: 719
- Musculoskeletal Abnormalities: 43
  - Craniofacial Abnormalities: 203
    - Kleefstra Syndrome: 40

Richard B Fisher Selected Research

Richard B Fisher Research Topics

Disease

Drug/Important Bio-Agent (IBA)