Familial Dandy-Walker variant in CDG syndrome. 1996

A Fiumara, and R Barone, and F Nigro, and G Sorge, and L Pavone

UI MeSH Term Description Entries
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D003616 Dandy-Walker Syndrome A congenital abnormality of the central nervous system marked by failure of the midline structures of the cerebellum to develop, dilation of the fourth ventricle, and upward displacement of the transverse sinuses, tentorium, and torcula. Clinical features include occipital bossing, progressive head enlargement, bulging of anterior fontanelle, papilledema, ataxia, gait disturbances, nystagmus, and intellectual compromise. (From Menkes, Textbook of Child Neurology, 5th ed, pp294-5) Dandy-Walker Malformation,Dandy-Walker Complex,Dandy-Walker Cyst,Dandy-Walker Deformity,Dandy-Walker Syndrome, Familial,Hydrocephalus, Internal, Dandy-Walker Type,Hydrocephalus, Noncommunicating, Dandy-Walker Type,Luschka-Magendie Foramina Atresia,Cyst, Dandy-Walker,Cysts, Dandy-Walker,Dandy Walker Complex,Dandy Walker Deformity,Dandy Walker Malformation,Dandy Walker Syndrome,Dandy Walker Syndrome, Familial,Dandy-Walker Complices,Dandy-Walker Cysts,Dandy-Walker Deformities,Familial Dandy-Walker Syndrome,Luschka Magendie Foramina Atresia,Malformation, Dandy-Walker
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D018981 Congenital Disorders of Glycosylation A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation. Carbohydrate-Deficient Glycoprotein Syndrome,Glycoprotein Syndrome, Carbohydrate-Deficient,Carbohydrate Deficient Glycoprotein Syndrome,Carbohydrate-Deficient Glycoprotein Syndromes,Syndrome, Carbohydrate-Deficient Glycoprotein,Syndromes, Carbohydrate-Deficient Glycoprotein

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