Jacobsen Syndrome (JBS)

Jacobsen Syndrome(来自ICD-11)

别称:

Jacobsen Distal 11q Deletion Syndrome

Chromosome 11q Deletion Syndrome

11q Terminal Deletion Syndrome

Partial 11q Monosomy Syndrome

11q Partial Monosomy Syndrome

Telomeric Deletion 11q

Distal Deletion 11q

Distal Monosomy 11q

Monosomy 11qter

Del(11)(q23.3)

Del(11)(qter)

Paris-Trousseau Thrombocytopenia

11q Terminal Deletion Disorder

Jacobsen Thrombocytopenia

Chromosome 11q Deletion

11q23 Deletion Disorder

11q- Deletion Syndrome

11q Deletion Disorder

11q Deletion Syndrome

Jbs

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Jacobsen Syndrome, also known as jacobsen distal 11q deletion syndrome, is related to johanson-blizzard syndrome and thrombocytopenia, paris-trousseau type, and has symptoms including muscle spasticity An important gene associated with Jacobsen Syndrome is JBS (Jacobsen Syndrome). Affiliated tissues include heart and eye, and related phenotypes are intellectual disability and global developmental delay

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