Global Variome shared LOVD

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Phenotype #0000328700 Individual ID 00438802 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details born at term, weight 3.450kg (45th percentile), height 47.5cm (5th), OFC 35cm (48th); 1m-hypotonia, poor contact, developmental delay;2y-6y-normal growth, not walking, no speech, stereotyped hand movements, self-injurious behaviour, mild dysmorphic features (oval face, floppy face, strabismus, prominent nose, wide mouth, everted inferior lip, hyperlaxity; severe intellectual disability, not walking, no speech; MRI brain 1–3y-non-specific anomalies, delayed myelination, thin corpus callosum; surgery for hip dysplasia due to joint hypermobility Inheritance Familial, autosomal recessive Age/Examination 03y (3 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 2023-10-24 15:48:06 +02:00 (CEST) Date last edited N/A

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