Global Variome shared LOVD

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Phenotype #0000242362 Individual ID 00320349 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; 3.5y-walk; speech few words; developmental regression; hand stereotypies; no epilepsy; hypotonia; MRI brain normal; coarse facies; height -0.4SD, BMI 38.1 (obese), OFC +2.7SD; skin Blaschkoid pigmentary mosaicism; no umbilical hernia; no orthopedic anomalies; no strabismus; hepatomegaly; recurrent otitis media; clinical suspicion for lysosomal storage disorder Age/Examination 11y5m (11 years, 5 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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