Global Variome shared LOVD

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

Phenotype #0000242363 Individual ID 00320350 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details no neonatal course; severe developmental delay/intellectual disability; autism spectrum disorder; 3y-walk; speech few words; developmental regression; hand stereotypies; 32m-epilepsy; hypotonia; MRI brain normal; coarse facies; height +0.16SD, BMI 18.5 (overweight), OFC +1.39SD; skin Blaschkoid pigmentary mosaicism; umbilical hernia; orthopedic anomalies; strabismus; hepatomegaly; recurrent otitis media; clinical suspicion for lysosomal storage disorder Age/Examination 5y6m (5 years, 6 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-11-27 13:30:34 +01:00 (CET) Date last edited N/A

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