Global Variome shared LOVD

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Phenotype #0000239663 Individual ID 00315917 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite GAND Phenotype details birth at term; birth weight 3800g, length 50cm; weight SD, height SD, OFC +2.34 SD; no neonatal hypotonia; motor delay; 3y-walk; speech delay; 4y10m-first words; severe intellectual deficiency; behavioral problems; no feeding difficulties; sleep disorder; no constipation; no deafness; no vision disorder; no strabismus; macrocephaly; dysmorphic features; no broad forehead; narrow palpebral fissures; deeply set eyes; hypertelorism; periorbital fullness; no ear anomalies; large/prominent nose; tubular shaped nose; short philtrum; pointed chin; no blond hair; no hands/feet anomalies; no long fingers; no clinodactyly Inheritance Isolated (sporadic) Age/Examination 35y (35 years) Age/Diagnosis 36y 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 2020-10-30 10:06:36 +01:00 (CET) Date last edited N/A

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