Global Variome shared LOVD

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Phenotype #0000236643 Individual ID 00311396 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth weight 2.5 Kg (<3rd %ile), length 45 cm (<3rd %ile); normal height, normal weight, OFC 0; developmental delay/intellectual disability, IQ80; no gross motor delay, no fine motor delay, walk-13m; speech delay, 1y-first words; no autism, attention deficit hyperactivity disorder; no hypotonia; no sleep problems; no hearing loss; strabismus; clinodactyly; triangular face, normal forehead, normal eyes, low-set, protruding and posteriorly rotated ears, normal nose, normal mouth; constipation (early infancy); MRI brain normal; ECG normal; imperforate anus, vestibular fistula; central precocious puberty; no family history Inheritance Isolated (sporadic) Age/Examination 10y (10 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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