Global Variome shared LOVD

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Phenotype #0000081900 Individual ID 00103968 Associated disease JBTS Phenotype details phenotype details: Mild Cerebellar vermal hypoplasia, mild Molar tooth sign; Perisylvian polymicrogyria; Oculomotor apraxia; Congenital bilateral ptosis; Dysmorphic facial features; Postaxial polydactyly of hands and feet; Macrocephaly; Neurodevelopmental delay; Dysarthria; Gait ataxia Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Enza Maria Valente Database submission license No license selected Created by Enza Maria Valente Date created 2017-04-28 16:59:12 +02:00 (CEST) Date last edited 2017-05-03 08:29:56 +02:00 (CEST)

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