Global Variome shared LOVD

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

Phenotype #0000348057 Individual ID 00460328 Associated disease SIHIWES Phenotype details height 9y 145 cm (97%), weight 9y 58 kg (SD +3.6); motor delay; speech delay; intellectual disability; episodes of irritability/screaming, episodes of tiredness, staring, episodes of aggressive/self-injurious behavior; MRI brain normal normal 2021, MRI brain 2012 demonstrated prominent anterior CSF spaces; atrial septal defect; hypoglycemia, mild elevation of lactic acid; joint pain; feeding difficulties and poor weight gain in early life but now overweight; episignature testing in parents mother positive for SIHIWES Diagnosis/Initial Sifrim-Hitz-Weiss syndrome Inheritance Unknown Diagnosis/Definite SIHIWES Age/Examination 9y (9 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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