Phenotype #0000348046

Individual ID	00460317
Associated disease	SIHIWES
Phenotype details	height 17y 150 cm (3%), boneage similar as chronological age, weight 17y 50 kg (24%), OFC 17y 51.5 cm (SD -2.6); motor delay, 3y-walki; speech delay, 3-4y-first words; moderate intellectual disability (IQ 50); no behavioral anomalies; no hypotonia; MRI brain boradened extracerebral space around vermis; no hearing loss; excavation of papil in right retina (atypic coloboma?), some tortuosity venes; Heterotaxia, right isomerism, total anomalous pulmonary venous return, ventricular septal defect, pulmonary atresia and hypoplastic pulmonary root; no urogenital anomalies; Late puberty and relatively low bone mineral density (Z score -2.1); normogonadotrophic oligomenorrhea; cubiti valgi; hands: Fusion os hamatum with os capitatum; valgus position of knees for which surgical correction was performed; Some caries, narrow palate; no gastrointestinal anomalies
Diagnosis/Initial	Sifrim-Hitz-Weiss syndrome
Inheritance	Unknown
Diagnosis/Definite	SIHIWES
Age/Examination	17y (17 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