Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000230373 Individual ID 00303297 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details height 84.5 cm (SD −0.28), weight 12.5kg (SD +0.10), OFC 47.5 cm (SD −0.8); mild developmental delay/intellectual disability; 17m-walk; 18m-first words; no regression; no seizures; muscular hypotonia; murmur,ultrasound normal; no urogenital anomalies; no gastro-intestinal anomalies; no skeletal anomalies Inheritance Isolated (sporadic) Age/Examination 20m 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 2020-06-09 19:07:12 +02:00 (CEST) Date last edited 2020-08-08 22:55:54 +02:00 (CEST)

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