Global Variome shared LOVD

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Phenotype #0000361538 Individual ID 00476863 Associated disease ? Diagnosis/Initial failure to thrive Diagnosis/Definite - Phenotype details see paper; ..., 9m-deceased; decreased fetal movement, intrauterine growth restriction; birth at term Ceasarean section, weight 2kg (Z-2.5); 9m-weight 7kg (Z-2.4), length 68cm (9th), OFC 41.5cm (Z-2.9); failure to thrive, facial dysmorphism (hypotonic face, retrognathia, long/smooth philtrum, low-set ears, ptosis, downturned corners mouth, epilepsy, profound hypotonia with minimal spontaneous movement, musculoskeletal abnormalities (bilateral dislocated hips, congenital vertical talus, camptodactyly, brachydactyly), micropenis, hypospadias, hydrocele; 9m-minimally responsive infant, respiratory distress/secretions, reflexes intact; MRI brain 9m-ventriculomegaly, increased extra-axial spaces, prominent cortical sulci, dysgenesis, thinning ocorpus callosum, cerebellar vermian hypoplasia, right hemicerebellar dysgenesis Inheritance Complex Age/Examination 00y09m (9 months) 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 2026-04-20 11:13:46 +02:00 (CEST) Date last edited 2026-04-20 11:26:40 +02:00 (CEST)

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