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skos:definition |
MSH: A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.,CSP: syndrome of elfinlike facies, mental retardation, growth deficiency, cardiovascular anomalies, and idiopathic infantile hypercalcemia.,JABL: A multiple congenital anomaly/mental retardation syndrome with a complex phenotype and age-related variability of expression. Typical facial appearance (elfin facies) is the most characteristic feature of this syndrome. Delayed growth, feeding difficulty, failure to thrive, colic, otitis media, and mental retardation are the early symptoms in infancy. Developmental disabilities and cardiovascular complications become apparent later in childhood. Hypertension, gastrointestinal problems, and genit
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