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  • A rare X-linked intellectual disability syndrome characterised by onset in infancy of delayed motor and speech milestones, generalised tonic-clonic seizures and drop attacks and mild to moderate intellectual disability. Additional less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance) and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported.
  • A rare X-linked intellectual disability syndrome characterized by onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks and mild to moderate intellectual disability. Additional less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance) and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported.
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