Global Variome shared LOVD

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Phenotype #0000348031 Individual ID 00460302 Associated disease SIHIWES Phenotype details height 17y 170 cm (34%); motor delay; speech delay; mild intellectual disability (IQ 70); autism, attention-deficit/hyperactivity disorder, anxiet, depression; no hypotonia; no hearing loss; normal vision; no urogenital anomalies; lordosis lumbosacral. Kyphoscoliosis with scoliosis; no dental anomalies, no palatal anomalies; Constipation with encopresis Diagnosis/Initial Sifrim-Hitz-Weiss syndrome Inheritance Unknown Diagnosis/Definite SIHIWES Age/Examination 17y (17 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth_Details - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-01-23 10:07:12 +01:00 (CET) Date last edited N/A

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