Global Variome shared LOVD

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Phenotype #0000236677 Individual ID 00311430 Associated disease NDD Diagnosis/Initial developmental delay Diagnosis/Definite - Phenotype details no perinatal history; severe developmental delay/intellectual disability; seizures,hypotonia, autistic traits; no malformation/anomalies; normal stature (SD 0.74), normal weight (SD 0.9), OFC normal (SD 1.93); craniofacial dysmorphisms 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 2020-09-25 11:13:06 +02:00 (CEST) Date last edited N/A

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