Phenotype #0000348049

Individual ID 00460320
Associated disease SIHIWES
Phenotype details height 14y 159 cm (28%), weight 14y 80 kg (SD +2.1), OFC 14y 59 cm (SD +2.9); motor delay, 1.7y-walk; speech delay; mild intellectual disability; no behavioral anomalies; 1st year hypotonia; MRI brain Chiari type 1 with moderate-severe ventriculomegaly and platybasia, vestibular acqueduct dilatation bilateray; bilateral neurosensorial hearing loss; normal vision; ECG normal; Undescended testis; 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 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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