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Xp22.3 Microdeletion Syndrome
Chondrodysplasia Punctata with Steroid Sulfatase Deficiency

Presentation

Entire Body System

  • Epilepsy

    Medical Term Other Names Description Seizures Epilepsy Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance [rarediseases.oscar.ncsu.edu]

  • Short Stature

    Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). [rarediseases.oscar.ncsu.edu]

Neurologic

  • Hyperactivity

    Attention deficit hyperactivity disorder Attention deficits, Attention deficit disorder, Childhood attention deficit/hyperactivity disorder, Attention deficit [more] Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first [rarediseases.oscar.ncsu.edu]

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