This<unk>  may be suspected on the basis of the clinical features listed above and abnormal EEG recording. Diagnosis is made through genetic testing with sequencing of the<unk>  gene.
SYT1-associated neurodevelopmental disorder
SYNGAP1-related intellectual disability
LMNA-related congenital muscular dystrophy
MECP2 duplication syndrome
Dopamine transporter deficiency syndrome
X-linked spinal muscular atrophy type 2
Foster Kennedy syndrome
Huntington's disease-like syndrome