Global Variome shared LOVD

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Phenotype #0000002978 Individual ID 00004261 Associated disease ACLS;JBTS12 Phenotype details Vermis: molar tooth sign; Corpus callosum: agenesis; Temporal pachygyria, malformed hippocampus; Upper limb polydactyly: postaxial right and left; Mental retardation, macrocephaly, large fontanelle, depressed and wide nasal bridge, short philtrum, bilateral optic atrophy, ventricular septal defect Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Tania Attie-Bitach Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2011-07-21 11:50:46 +02:00 (CEST) Date last edited N/A

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