Phenotype #0000348029

Individual ID	00460300
Associated disease	SIHIWES
Phenotype details	height 99%, weight 88%, OFC 97%; motor delay; speech delay; borderline intellectual disability (IQ 80); autism; mild hypotonia; MRI brain normal nonspecific T2 hyperintense focus, otherwise normal; no hearing loss; corrective lenses; ECG normal; no urogenital anomalies; heel cord tightness, intermittent lower extremity pain and fatigue, frequent falls and reduced stamina; no dental anomalies, no palatal anomalies; no gastrointestinal anomalies
Diagnosis/Initial	Sifrim-Hitz-Weiss syndrome
Inheritance	Unknown
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
Created by	Johan den Dunnen
Date created	2025-01-23 10:07:12 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD