Phenotype #0000333458

Individual ID	00444206
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	BBSOAS
Phenotype details	global developmental delay and delayed visual maturation, Autism spectrum disorder, Learning disability; ; balance and coordination deficits; febrile seizure (single episode); 34wg+6 preterm birth, Macrocephaly, Morgagni hernia (laparoscopic repair), Arterial wall aneurysm, History of elevated liver enzymes, History of respiratory distress, Moderate-severe hypotonia; moderate diffuse thinning of the posterior body and splenium of the corpus callosum, Mild T2 prolongation in the periatrial region with associated white matter volume loss (periventricular leukomalacia), Diffuse marked thinning of the optic chiasm and optic nerves bilaterally with abnormal T2/FLAIR hyperintensity.
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-12-20 21:37:03 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD