Global Variome shared LOVD

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Phenotype #0000309973 Individual ID 00418637 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., birth 38w, intra uterine growth retardation, perinatal asphyxia; weight >97th, height 90-97th, OFC 2nd-10th; speech delay; moderate intellectual disability; flat occiput, straight eyebrows, small mouth, bifid uvula, highly arched palate, dorsal left convex kyphoscoliosis, bilateral pes planus; poor feeding; hypotonia; no velopharyngeal insufficiency; joint laxity Inheritance Isolated (sporadic) Age/Examination 13y (13 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 2022-10-03 12:07:51 +02:00 (CEST) Date last edited N/A

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