Global Variome shared LOVD

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Phenotype #0000236646 Individual ID 00311399 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth weight normal, length normal, OFC normal; normal height, weight -2SD, OFC -2.1; developmental delay/intellectual disability; no gross motor delay, fine motor delay, walk-15m; speech delay, 2y-3y-first words; autistic features, no attention deficit hyperactivity disorder; hypotonia; no sleep problems; no hearing loss; normal vision; joint pain (hands and feet), long slender fingers, Marfanoid features; normal skin; narrow face, normal forehead, deep set eyes, protruding ears, normal nose, microretrognathia; swallowing difficulties; MRI brain normal; ECG wide aortic root (z-score=2.6); no family history Inheritance Isolated (sporadic) Age/Examination 16y (16 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 2020-09-24 16:15:46 +02:00 (CEST) Date last edited N/A

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