Global Variome shared LOVD

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Phenotype #0000232801 Individual ID 00306982 Associated disease CSS Diagnosis/Initial Coffin-Siris syndrome Diagnosis/Definite CSS9 Phenotype details see paper; ..., height 124.5 cm (75th), weight 29 kg (91st), OFC 54 cm (75th), walk—16m, significant speech delay, 5th finger clinodactyly, 2–3 toe syndactyly, hypoplasia nail 5th toe, oculomotor apraxia Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis 06y10m Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-07-25 17:56:09 +02:00 (CEST) Date last edited N/A

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