Global Variome shared LOVD

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Phenotype #0000323900 Individual ID 00433380 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details congenital microcephaly, stenosis of the external auditory canal, epicanthus, long palpebral fissures, long philtrum, thin upper lip vermilion, delayed speech and language development, global developmental delay, muscular hypotonia Inheritance Unknown Age/Examination 03y05m (3 years, 5 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Nadja Baalmann Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Nadja Baalmann Date created 2023-03-07 17:20:38 +01:00 (CET) Date last edited 2023-03-08 12:24:22 +01:00 (CET)

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