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skos:definition |
JABL: Typical facies with a prominent nose and retruded mandible, cleft palate, cardiovascular defects, learning disability, retarded mental development, and short stature. Elements of this syndrome are frequently present in the Robin syndrome.,CSP: caused by microdeletion on chromosome 22q11.2; associated with multiple congenital anomalies, learning disabilities, behavioral phenotypes including ADHD and anxiety, with schizophrenic risk in adulthood.
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