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skos:definition |
JABL: Moderate to severe mental retardation, short stature, mild obesity, hypogonadism, low total finger ridge count, and distinctive narrow facies marked by macrostomia, and abnormal palpebral fissures, upper lip, and nose.,JABL: A rare syndrome of mental retardation, growth failure, characteristic facies, sensorineural deafness, microgenitalism, and early death.
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