Global Variome shared LOVD

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Phenotype #0000210220 Individual ID 00275609 Associated disease ? Diagnosis/Initial developmental delay Diagnosis/Definite - Phenotype details birth 41w, birth weight 3,230g (-0.57), length 53.98cm (+1.26); weight 13.7kg (-0.37), height 100.3cm (+1.13), OFC 47cm (-1.04); global developmental delay (severe); gross motor delay; fine motor delay; speech delay; high pain tolerance; seizures; EEG abnormal; extensor posturing; hypotonia; no hypertonia; normal; nystagmus; no cardiovascular anomalies; scoliosis; feeding difficulties, G-tube, constipation; brachycephaly; tall or broad forehead; no long face; protruding ears; short nose, long philtrum; hypotonic face/open mouth; no high arched palate Inheritance Familial, autosomal recessive Age/Examination 3y3m (3 years, 3 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 2020-01-11 14:20:58 +01:00 (CET) Date last edited N/A

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