Phenotype #0000228365

Individual ID	00301060
Associated disease	?
Diagnosis/Initial	intellectual disability, congenital malformations, failure to thrive
Diagnosis/Definite	ZTTKS
Phenotype details	intrauterine growth restriction, oligohydramnios, pre-eclampsia, fetal anomalies; birth 36w, vaginal delivery; feeding difficulties, respiratory issues; height −3 (Z score), weight 2nd percentile, OFC 12th percentile; developmental delay; no regression; no autism spectrum disorder; no seizures, abnormal EEG; hypotonia; downslanting palpebral fissures, long face, full cheeks, short philtrum, thin lips; brain imaging evidence of prior MCA stroke, prominent ventricles; congenital dysplastic kidney, congenital lobar emphysema; strabismus; inconclusive hearing assessment; dysphagia, G-tube feeding; no musculo-skeletal features; prior middle cerebral artery infarct, multiple transient ischemic attacks
Inheritance	Isolated (sporadic)
Age/Examination	9y (9 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-05-06 16:54:09 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD