Phenotype #0000231756

Individual ID	00305909
Associated disease	NDD
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	no dysmorphisms; speech delay, 15m-first words; 2.5-3y-onset motor regression; meeting milestones for expressive language until 2 years, regression between 4-5 years; 2y-met gross motor skill milestones, 5.5y-wheelchair bound; 3y-met fine milestones, 6.5y-no intentional movements; 4y-mild-mod oropharyngeal dysphagia without aspiration, 6y-silent aspiration and tube feeds; G-tube fed, lost toilet training; ataxia, dystonia, choreoathetosis; bilateral ophthalmoplegia, lower>upper facial nerve palsy, limited up and down gaze; 5.5y-normal deep tendon reflexes; axial hypotonia, 5.5y-walk with significant support, 6.5y-bedridden with no head control; 5.5y-exam suggestive of dysmetria, excessive drooling without evidence of myopathic facies, waxing/waning spasticity; 6y-no intellectual disabilit, 6y-PPVT-4, average range, 4y-Vineland II low average - composite score 71, 4y-DAS GCA 83; 6y-clinical suspicion seizures; EEG 5y-abnormal, diffuse slowing, frequent multifocal interictal spikes and slow wave discharges from L occipital and R temporal lobes; MRI brain 5y-normal
Inheritance	Isolated (sporadic)
Age/Examination	7y (7 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-07-05 16:07:27 +02:00 (CEST)
Date last edited	2020-07-06 09:38:36 +02:00 (CEST)