Global Variome shared LOVD

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Phenotype #0000037243 Individual ID 00050631 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details hypomimic face, upslanted palpebral fissure, short palm, small feet, third toe clinodactyly, fifth toe clinodactyly, joint hypermobility, iron deficiency anemia, intellectual disability, delayed speech and language development, global developmental delay, delayed speech and language development, delayed gross motor development, amblyopia, strabismus Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2015-09-27 16:16:40 +02:00 (CEST) Date last edited N/A

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