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Summary
CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1 (CPSQ1)
603513
OMIM = Online Medalian Inheritance of Men
210141
2q31.1
rare
autosomal recessive

symptoms
contractures, joints
hyperreflexia
hypertonia, spasticity
mental retardation
microcephaly (<2 SD for age)
onset, infancy
scoliosis
spastic diplegia/quadriplegia/tetraplegia
laboratory finding
no specific laboratory findings (P, S, U ,CSF) blood
Literature
Albaramki J,et al.Sanjad Sakati syndrome: a case series from JordanEast Mediterr Health J185527-5312012
Prasad R,et al.Status epilepticus in a child with Sanjad Sakati syndromeBMJ Case Rep002013