Global Variome shared LOVD

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Phenotype #0000230376 Individual ID 00303300 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details height 157.5 cm (SD −0.41), weight 44.4kg (SD −0.61), OFC 51.8 cm (SD −1.9); mild developmental delay/intellectual disability; 14m-walk; 14m-first words, >2y-speech 2-word combinations; possible regression in speech; 12y-myoclonus seizures; MRI normal; no muscular hypotonia; autism; ventricle septum defect (self-resolved); unilateral hydronephrosis; no urogenital anomalies; no gastro-intestinal anomalies; lordosis, hallux valgus, toe syndactyly II/III; premature adrenarche Inheritance Isolated (sporadic) Age/Examination 13y (13 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-06-09 19:07:12 +02:00 (CEST) Date last edited 2020-08-08 22:55:54 +02:00 (CEST)

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