Global Variome shared LOVD

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Phenotype #0000041339 Individual ID 00054660 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper; uncomplicated pregnancy/delivery; 6w microcephaly, 5y OFC 46 cm (-3-4 SD); delayed developmental milestones, sat_support-15m, walk-3y, speech delayed (5y only short 2-3 word sentences), short-sighted, strabismus, behavioural difficulties (aggressive outbursts), no seizures, mild facial dysmorphism, long palpebral fissures, bulbous nose tip, wide mouth, no brachytelephalangy Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset global developmental delay, micro-cephaly 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 2015-11-07 19:10:36 +01:00 (CET) Date last edited 2015-11-07 19:40:10 +01:00 (CET)

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