Global Variome shared LOVD

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Phenotype #0000016160 Individual ID 00017626 Associated disease JBTS1 Inheritance Familial, autosomal recessive Phenotype details Polydactyly, postaxial; Delayed psychomotor development; hypotonia; frontally pronounced polymicrogyria, cerebellar hypoplasia and myelinisation defects; nystagmus and hyperopia; ´molar tooth sign´; ataxia Diagnosis/Initial - Age/Examination 00y00m () Diagnosis/Definite - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Valeska Frank Database submission license No license selected Created by Valeska Frank Date created 2014-06-30 08:37:18 +02:00 (CEST) Date last edited 2014-06-30 21:28:19 +02:00 (CEST)

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