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"Joubert"에 대한 세부 검색 결과입니다
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Joubert's syndrome (Jou
출처: www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspz...
Joubert syndrome Joubert syndrome is a rare genetic disorder that affects the area of the brain that controls balance and coordination. The disorder is characterized by absence or underdevelopment of a part of the brain called the cerebellar vermis and a malformed brain stem. The most common features include ataxia (lack of muscle control), an abnormal breathing pattern called hypernea, sleep apnea, abnormal eye and tongue movements, and hypotonia. ...
출처: en.wikipedia.org/wiki/Joubert_syndrome
Joubert syndrome A genetic syndrome with episodic hyperpnea/apnea (disturbances of respiratory control), opsoclonus (abnormal eye movements), mental retardation, hypotonia (decreased muscle tonei. ...
출처: www.childrenwithchallenges.net/definitions/J.html
Joubert's s. an autosomal recessive syndrome consisting of partial or complete agenesis of the cerebellar vermis, with hypotonia, episodic hyperpnea, mental retardation, and abnormal eye movements; most patients die in infancy.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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