Phenotype #0000319020

Individual ID	00428074
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental dealy
Diagnosis/Definite	-
Phenotype details	brith 37w, weight 2,660 g, length 48 cm; delayed speech development; delayed gross motor development; delayed fine motor milestones; severe global developmental delay; seizures, West syndrome (infantile spasms, onset 6months); no autism; hypotonia; MRI brain small temporal tips and uncovered insula, decreased volume but fully formed corpus callosum, small anterior commissure, decreased cerebral volume predominantly white matter and most prominent right greater than left frontal lobe and peritrigonal regions with probably secondary decreased thalamic and cerebral peduncle volume, gliosis in the occipital periventricular white matter, interdigitation of the inferomedial frontal gyri, small fornices, small optic nerves, chiasm and tracts, mildly rotated, slightly small vermis, mild prominence of the cerebellar and vermian fissures suggesting gray matter volume loss, small pons, medulla and middle cerebellar peduncles; no behavior abnormalities; no failure to thrive; feeding problems, G-tube; no dysmotility; hypoventilation, tracheostomy in place; no vision/eye abnormalities; no hearing impairment; no dysmorphic features; congenital patent ductus arteriosu s/p closure; type I and II atrophic myocytes, ∼80% of myocytes express lipid globules compilations
Inheritance	Isolated (sporadic)
Age/Examination	9y (9 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-12-21 10:47:09 +01:00 (CET)
Date last edited	N/A