Global Variome shared LOVD

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Phenotype #0000337111 Individual ID 00447919 Associated disease CSS Diagnosis/Initial Coffin-Siris Syndrome Diagnosis/Definite CSS6 Phenotype details see paper; ..., no prenatal findings, birth 39w, weight 3.1 kg (25th–50th%), length 48.5 cm (50th%); feeding difficulties; hypotonia; no seizures; nystagmus, amblyopia; sensorineuronal hearing loss; no cleft lip/palate; prescribed AFOs; torticollis; Inheritance Isolated (sporadic) Age/Examination 9y6m (9 years, 6 months) Age/Diagnosis 4y6m 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 2024-02-01 16:08:19 +01:00 (CET) Date last edited N/A

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