This syndrome is characterized by severe intellectual deficit, hypotonia, mild facial dysmorphism and aggressive behavior. It has been described in 10 male members spanning four generations of one family. The facial dysmorphism includes a high forehe

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syndrome de déficience intellectuelle liée à l'X-hypotonie-dysmorphie faciale-comportement agressif

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An extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve c

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maladie de Charcot-Marie-Tooth intermédiaire autosomique récessive type B

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A rare multiple malformation syndrome with characteristics of severe intrauterine growth retardation, severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. Severe central nervous system defects

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syndrome de Neu-Laxova

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Definition: The essential feature is a persistent preoccupation with the possibility of having one or more serious and progressive physical disorders. Patients manifest persistent somatic complaints or a persistent preoccupation with their physical appearance. Normal or commonplace sensations and appearances are often interpreted by patients as abnormal and distressing, and attention is usually focused upon only one or two organs or systems of the body. Marked depression and anxiety are often present, and may justify additional diagnoses. | Body dysmorphic disorder Dysmorphophobia (nondelusional) Hypochondriacal neurosis Hypochondriasis ...[+++]

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Définition: La caractéristique essentielle de ce trouble est une préoccupation persistante concernant la présence éventuelle d'un ou de plusieurs troubles somatiques graves et évolutifs, se traduisant par des plaintes somatiques persistantes ou par une préoccupation durable concernant l'apparence physique. Des sensations et des signes physiques normaux ou anodins sont souvent interprétés par le sujet comme étant anormaux ou pénibles. L'attention du sujet se concentre habituellement sur un ou deux organes ou systèmes. Il existe souvent une dépression et une anxiété importantes, pouvant justifier un diagnostic supplémentaire. | Dysmorphophobie (non délirante) Hypocondrie Névrose hypocondriaque Nosophobie Peur d'une ...[+++]

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Fetal alcohol syndrome (dysmorphic)

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Syndrome d'alcoolisme fœtal (dysmorphique)

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D'autres ont cherché : fetal alcohol syndrome dysmorphic glomerular erythrocyturia dysmorphism dysmorphism syndrome dysmorphy

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Date index: 2021-06-24