Global Variome shared LOVD

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Phenotype #0000002980 Individual ID 00004263 Associated disease ACLS;JBTS12 Phenotype details Vermis: molar tooth sign; Corpus callosum: thin; Wide ventricles, hypomyelinization; Upper limb polydactyly: cutaneous syndactyly; Lower limb polydactyly: postaxial right and left, cutaneous syndactyly; Mental retardation, hypotonia, macrocephaly, prominent forehead, hypertelorism, depressed and wide nasal bridge, short philtrum, congenital hypothryroidism 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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