Global Variome shared LOVD

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Phenotype #0000236644 Individual ID 00311397 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth weight 2.5 Kg (<3rd %ile), length 45 cm (<3rd %ile), OFC normal; normal height, normal weight, OFC -0.26; developmental delay/intellectual disability, IQ50; gross motor delay, fine motor delay, walk-16m; speech delay; no autism, attention deficit hyperactivity disorder, anger with tremor; no hypotonia; no sleep problems; no hearing loss; normal vision; joint hypermobility; round face, normal forehead, normal eyes, normal ears, anteverted nares, normal mouth; no gastrointestinal problems; bilateral inguinal hernia; no family history Inheritance Isolated (sporadic) Age/Examination 11y (11 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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