Phenotype #0000348027

Individual ID 00460298
Associated disease SIHIWES
Phenotype details height 4y 102.87 cm (56%), weight 4y 15.4 kg (30%), OFC 3y 50.3 cm (66%); motor delay; speech delay; autism; hypotonia; MRI brain normal; no hearing loss; corrective lenses,- astigmatism; ECG normal; no urogenital anomalies; hypothyroidism; no skeletal anomalies; no dental anomalies, no palatal anomalies; gastroesophagial reflux disease, gastroparesis; prematurity 29gw+5; respiratory distress; obstructive sleep apnea
Diagnosis/Initial Sifrim-Hitz-Weiss syndrome
Inheritance Unknown
Diagnosis/Definite SIHIWES
Age/Examination 4y (4 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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