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PURA syndrome information


PURA syndrome
Other namesPURA-related neurodevelopmental disorder
SpecialtyMedical genetics
SymptomsDevelopmental, speech and walking delays with epilepsy and other associated anomalies
CausesMutation in the PURA gene, located on Chromosome 5 at 5q31.
PreventionNone
PrognosisMedium (with treatment)
Frequencyvery rare, with roughly 500 reported in medical literature worldwide
Deaths-

PURA syndrome, also known as PURA-related neurodevelopmental disorder, is a rare novel genetic disorder which is characterized by developmental and speech delay, neo-natal hypotonia, failure to thrive, excessive sleepiness, epilepsy, and other anomalies.[1]

  1. ^ "PURA syndrome: MedlinePlus Genetics". medlineplus.gov. Retrieved 2022-06-01.

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