Global Variome shared LOVD

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Phenotype #0000243376 Individual ID 00324880 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., birth 41w, weight +0.8SD, length +2SD, OFC +0.7SD; weight 4SD, length +1.5SD, OFC -0.6SD; moderate intellectual disability/developemental delay; no hypotonia; no seizures; motor delay; 20m-walk; speech delay; 36m-no speech; autistic behaviour; hyperactivity; no feeding difficulties; sleeping disturbance; prominent forehead; almond eyes; flat nasal bridge; thin upper lip; brachycephaly Inheritance Isolated (sporadic) Age/Examination 05y07m (5 years, 7 months) 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 2020-12-24 15:03:09 +01:00 (CET) Date last edited 2022-09-30 19:27:21 +02:00 (CEST)

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