Global Variome shared LOVD

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Phenotype #0000230667 Individual ID 00303604 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite IDDSADF Phenotype details birth 38w, weight 2870 g; no peri/postnatal issues; height 0.4-2 centile, OFC 50-75 centile; walk-14m; ?; 5y-6y-speech, now short phrases and echolalia; severe learning difficulties, sensory issues and rocking movements; strabismus, visual processing disorder, bilateral discrete raised lesions superior to optic discs calcium deposits secondary to retinal haemorrhage; Straight, heavy eyebrows, deep set eyes, upslanting palpebral fissures, short philtrum, full lower lip, full slightly overhanging nasal tip, long fingers; scoliosis, hairy, episodes of hyperventilation Inheritance Isolated (sporadic) Age/Examination 19y (19 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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