Phenotype #0000231814

Individual ID	00305966
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	NEDAMSS
Phenotype details	see paper; ..., uneventful pregnancy and delivery; infancy developmental delay; 4y-febrile seizure, 16y-afebrile seizure provoked by light stimulation, 17y-myoclonic and myoclonic-tonic seizures involving both upper limbs, sometimes followed by loss of awareness and falling to floor, affected by episodes of instability with frequent falls and myoclonus of non-epileptic origin; EEG paroxysmal abnormalities (sharp-and-slow waves, polyspike-and slow waves) either diffuse or over frontal/temporal regions, increasing during photic stimulation (at low-medium-high frequencies) and upon eye closure, on normal background; speech impairment, hypotonia, increased deep tendon reflexes, cerebellar signs (instability, lack of motor coordination, tremor, ataxia); moderate intellectual disability, psychiatric profile characterized by severe inhibition, anxiety and panic attacks, depression, obsessive–compulsive traits, aggressive bouts
Inheritance	Unknown
Age/Examination	31y (31 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-07-06 13:53:36 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD