Phenotype #0000348054

Individual ID 00460325
Associated disease SIHIWES
Phenotype details motor delay; speech delay; intellectual disability; hyperactivity; ECG normal; Undescended testis; scoliosis
Diagnosis/Initial Sifrim-Hitz-Weiss syndrome
Inheritance Unknown
Diagnosis/Definite SIHIWES
Age/Examination 14y (14 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 InternationalCreative Commons License
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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