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skos:definition |
JABL: Growth retardation associated with muscle, liver, brain, and eye abnormalities marked by hypotonia, congestive pericarditis with elevated venous pressure, triangular face often with hydrocephaloid skull, hepatomegaly, yellowish dots and pigment dispersion in the fundus oculi, and borderline mental deficiency Most reported cases come from Finland.,NCI: An autosomal recessive inherited disorder caused by mutations in the TRIM37 gene. It is characterized by marked growth retardation and abnormalities in multiple organs including heart, liver, muscle, eyes, and brain.,MSH: Growth failure from birth that is due to mutations in a gene (TRIM37) on chromosome 17q22-q23 which encodes a RING-B-box-coiled-coil protein.
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