Phenotype #0000348037

Individual ID 00460308
Associated disease SIHIWES
Phenotype details height 30y 185cm (88%), weight 30y 68.5 kg (47%), OFC 30y 57 cm (91%); motor delay, 1y6m-walk; speech delay; mild intellectual disability; no behavioral anomalies; hypotonia; MRI brain ventricular dilatation, Arnold-Chiari type 1; sensorineural hearing loss; myopia; mitral valve prolapse; no urogenital anomalies; scoliosis, pes cavus; no dental anomalies, no palatal anomalies; no gastrointestinal anomalies
Diagnosis/Initial Sifrim-Hitz-Weiss syndrome
Inheritance Isolated (sporadic)
Diagnosis/Definite SIHIWES
Age/Examination 30y (30 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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