Jacobsens syndrom
Engelsk navn: Jacobsen syndrome
Engelske synonym: 11q terminal deletion syndrome,Del(11)(q23.3),Del(11)(qter),Distal deletion 11q,Distal monosomy 11q,Monosomy 11qter,Telomeric deletion 11q
Definisjon
A rare genetic disorder caused by deletions in the long arm of chromosome 11 (<i>11q</i>) and mainly characterized by craniofacial dysmorphism, congenital heart disease, intellectual disability, Paris Trousseau bleeding disorder, structural kidney defects and immunodeficiency.
Fra Orphanet
ORPHA: 2308
Klassifiseringsnivå: Disorder
ICD-10: Q93.5
Mer informasjon
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