Phenotype #0000311155

Individual ID	00419886
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	CSS10
Phenotype details	birth 39w; no IUGR; failure to thrive; hypotonia; global developmental delay; gross motor delay; fine motor delay; 6m-sit; 18m-walk; speech delay, 18m-37 lost words, 18m-first words; mild intellectual disability; behavioral problems; hyperactivity/ADHD; no anxiety; emotional lability; possible microbrachycephaly; MRI brain mega cisterna magna, multiple (4-5) scattered foci of nonspecific increased T2/FLAIR, signal abnormality in the bilateral periventricular white matter and left cerebellar dentate nucleus, no associated enhancement or restricted diffusion, normal corpus callosum; suspected complex partial seizures; EEG normal; wide-based and ataxic gait; no myopia; no strabismus; left amblyopia; hyperopia; astigmatism; unilateral conductive hearing loss and preauricular tag; dysplastic ossicles with normal cochlea and semicircular canal; facial dysmorphism, tall forehead, epicanthal folds, depressed nasal root;, bulbous nasal tip, long philtrum, cleft palate, right grade 3 microtia with auditory canal stenosis and preauricular tag but no facial asymmetry; no ventricular septal defect; no atrial septal defect; patent foramen; no vascular anomalies; no genitourinary findings; thin nails
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	2022-10-24 18:06:51 +02:00 (CEST)
Date last edited	N/A