Global Variome shared LOVD

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Phenotype #0000038754 Individual ID 00052132 Associated disease MRD20 Phenotype details see paper (other patients); born at term, uneventful pregnancy, birth weight 3450g (50th), birth length 51cm (50th), OFC 36.5cm (90th); 9m-febrile seizures, generalised hypotonia, developmental delay; 11m-sit; 18y-weight 105kg, height 1.82m, OFC 60cm (>98th), facial appearance slightly dysmorphic, deeply set eyes, prominent chin; neurological examination normal, significantly mentally retarded, no autonomy (IQ 46), no reading; MRI-large ventricles without hydrocephalus, blunted appearance angle lateral ventricles, large cisterna magna without abnormality tentorium; female carriers mildly affected Diagnosis/Initial - Inheritance Familial, X-linked recessive Diagnosis/Definite - Age/Examination 18y (18 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth_Details - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2015-10-16 19:19:42 +02:00 (CEST) Date last edited 2015-10-16 19:30:49 +02:00 (CEST)

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