Global Variome shared LOVD

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Phenotype #0000037034 Individual ID 00050422 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details intrauterine growth retardation, early cataracts, feeding difficulties in infancy, proportionate short stature, specific learning disability, microcephaly, abnormality of the frontal hairline, single transverse palmar crease, cerebellar atrophy, ventriculomegaly, abnormality of the skin 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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