Global Variome shared LOVD

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Phenotype #0000230661 Individual ID 00303598 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite IDDSADF Phenotype details birth 40w, weight 3120 g; no peri/postnatal issues; height 9-25 centile, weight 9-25 centile, OFC 25-50 centile; walk-15m; fine motor development normal, some delay of gross motor skills but now able to cycle; ?; speech delayed, nasal speech; autistic spectrum disorder, learning difficulty; strabismus; Small triangular skull, coarse hair, narrow nasal bridge, long columella, short philtrum, prominent eyebrows; MRI brain 6y-normal; 5y-normal echo heart/kidney; pes planovalgus Inheritance Isolated (sporadic) Age/Examination 15y (15 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 2020-06-16 23:30:21 +02:00 (CEST) Date last edited N/A

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