Patients present with<unk>  impairments and symptoms including: * Infantile hypotonia * Congenital ophthalmic abnormalities * Childhood onset hyperkinetic movement<unk>  * Sterotypical motor behaviour * Moderate to profound developmental delay or intellectual disability * Sleep disturbance * Episodic agitation Epileptic seizures are not a feature of this<unk>  (despite abnormal EEG) and head circumference is typically normal.
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