Phenotype #0000348030

Individual ID 00460301
Associated disease SIHIWES
Phenotype details height 8y 143 cm (SD +2.5), weight 10y 62 kg (SD +3.3), OFC 10y 58 cm (SD +3.6); 2y4m-motor delay; speech delay; moderate intellectual disability; no behavioral anomalies; generalized epilepsy; MRI brain normal; no hearing loss; normal vision; ECG normal; micropenis; no skeletal anomalies; no dental anomalies, no palatal anomalies; no gastrointestinal anomalies
Diagnosis/Initial Sifrim-Hitz-Weiss syndrome
Inheritance Isolated (sporadic)
Diagnosis/Definite SIHIWES
Age/Examination 8y (8 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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