Phenotype #0000348041

Individual ID	00460312
Associated disease	SIHIWES
Phenotype details	motor delay; speech delay; intellectual disability; autism; no hypotonia; MRI brain cerebral atrophy more pronounced frontal lobes, discrete atrophy hippocampi, mild/moderate dilatation ventricles, with narrowing cerebral aqueduct upper ends; normal vision; ECG normal; no skeletal anomalies; no dental anomalies, no palatal anomalies; no gastrointestinal anomalies; sleep problems
Diagnosis/Initial	Sifrim-Hitz-Weiss syndrome
Inheritance	Unknown
Diagnosis/Definite	SIHIWES
Age/Examination	8.5y
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