Global Variome shared LOVD

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Phenotype #0000230660 Individual ID 00303597 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite IDDSADF Phenotype details birth 38w, weight 3856 g; no peri/postnatal issues; height 2 centile, weight 0.4-2 centile, OFC 75-91 centile; 30m-cruising furniture; comparatively good fine motor skills; borderline hypotonia; speech no expressive language skills, hoarse voice; marked autism; normal hearing, normal vision; Prominent forehead, flat nasal bridge, macroglossia, short tapering fingers, small feet; MRI brain 2y-normal; 5y-trivial aortic regurgitatio, normal renal USS; delayed bone age, lower thoracic kyphosis, possible small genitalia Inheritance Isolated (sporadic) Age/Examination 12y (12 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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