Global Variome shared LOVD

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

Phenotype #0000337353 Individual ID 00448138 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details height -1.37SD; severe developmental delay/intellectual disability; delayed walking; speech delay, vocalizations only; dysmorphic facial features; skeletal anomalies hands, feet, thorax, palate; no dilated cardiomyopathy; abnormal muscle tone; no seizures; behavioral anomalies; digestive problems, chronic constipation; visual anomalies; no urogenital/kidney anomalies; MRI brain enlarged ventricles; EEG abnormal Inheritance Isolated (sporadic) Age/Examination 6y (6 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 2024-02-18 13:47:08 +01:00 (CET) Date last edited N/A

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